All transcript variants in gene HARS

Information The variants shown are described using the NM_002109.4 transcript reference sequence.

34 entries on 1 page. Showing entries 1 - 34.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Allele Count     

Allele Number     

Combined Depth     

Heterozygote     

Homozygous     

Owner     
./. - c.-64C>T r.(=) p.(=) g.140070953G>A - HARS_000034 rs113209109 0.003891 2 514 2151 - - Admin
./. - c.14C>A r.(?) p.(Ala5Glu) g.140070876G>T - HARS_000033 rs78741041 0.00969 5 516 5519 - - Admin
./. - c.90+81A>G r.(=) p.(=) g.140070719T>C - HARS_000032 rs73273304 0.007752 4 516 8667 - - Admin
./. - c.90+91G>A r.(=) p.(=) g.140070709C>T - HARS_000031 rs184098206 0.003876 2 516 8426 - - Admin
./. - c.91-118G>T r.(=) p.(=) g.140070647C>A - HARS_000030 rs1316265403 0.005814 3 516 5643 3 0 Admin
./. - c.174C>T r.(=) p.(=) g.140070446G>A - HARS_000029 rs761695061 0.001938 1 516 9136 - - Admin
./. - c.181-484C>T r.(=) p.(=) g.140063288G>A - HARS_000028 rs73271591 0.005814 3 516 2081 - - Admin
./. - c.181-475G>A r.(=) p.(=) g.140063279C>T - HARS_000027 rs116730458 0.001953 1 512 2036 - - Admin
./. - c.300+50A>G r.(=) p.(=) g.140062635T>C - HARS_000026 rs148584540 0.003876 2 516 7649 - - Admin
./. - c.300+138G>A r.(=) p.(=) g.140062547C>T - HARS_000025 rs2530239 0.465 240 516 2872 - - Admin
./. - c.301-40T>C r.(=) p.(=) g.140059508A>G - HARS_000024 rs199708346 0.001938 1 516 2179 - - Admin
./. - c.523-68G>T r.(=) p.(=) g.140057668C>A - HARS_000023 rs79408883 0.003876 2 516 7862 - - Admin
./. - c.523-57G>A r.(=) p.(=) g.140057657C>T - HARS_000022 rs142443502 0.016 8 516 8284 - - Admin
./. - c.523-23G>A r.(=) p.(=) g.140057623C>T - HARS_000021 rs112967222 0.003876 2 516 9515 - - Admin
./. - c.588C>T r.(=) p.(=) g.140057535G>A - HARS_000020 rs2230361 0.047 24 516 9959 - - Admin
./. - c.622C>T r.(=) p.(=) g.140057501G>A - HARS_000019 rs754094386 0.001938 1 516 9369 - - Admin
./. - c.631-48C>G r.(=) p.(=) g.140057386G>C - HARS_000018 rs112113896 0.001938 1 516 9331 - - Admin
./. - c.729+24C>T r.(=) p.(=) g.140057216G>A - HARS_000017 rs811382 0.2 103 516 6209 - - Admin
./. - c.730-17G>A r.(=) p.(=) g.140057022C>T - HARS_000015 rs189624055 0.001938 1 516 7107 - - Admin
./. - c.823+33G>A r.(=) p.(=) g.140056879C>T - HARS_000013 rs374609443 0.001938 1 516 9549 - - Admin
./. - c.824-74T>G r.(=) p.(=) g.140056775A>C - HARS_000011 rs11954514 0.099 51 516 8771 - - Admin
./. - c.951+19G>A r.(=) p.(=) g.140056555C>T - HARS_000009 rs73271581 0.012 6 516 9156 - - Admin
./. - c.952-23T>C r.(=) p.(=) g.140056504A>G - HARS_000007 rs200151259 0.003876 2 516 9259 - - Admin
./. - c.1110C>T r.(=) p.(=) g.140056323G>A - HARS_000005 rs761267344 0.001938 1 516 9343 - - Admin
./. - c.1127A>G r.(?) p.(Lys376Arg) g.140056306T>C - HARS_000016 rs139447495 0.005814 3 516 9467 - - Admin
./. - c.1194+92del r.(=) p.(=) g.140056147del - HARS_000014 rs11344157 0.001938 1 516 3139 1 0 Admin
./. - c.1195-61C>T r.(=) p.(=) g.140054779G>A - HARS_000012 - 0.001938 1 516 3139 1 0 Admin
./. - c.1261C>G r.(?) p.(Leu421Val) g.140054652G>C - HARS_000010 rs34790864 0.003876 2 516 9873 - - Admin
./. - c.1312-95_1312-94insTAATGGATCCTGCCATTACTTCTCA r.(=) p.(=) g.140054504_140054505insTGAGAAGTAATGGCAGGATCCATTA - HARS_000008 rs1409079758 - - - - - - Admin
./. - c.1312-75G>A r.(=) p.(=) g.140054485C>T - HARS_000006 rs2530241 0.399 206 516 11207 - - Admin
./. - c.1312-33C>G r.(=) p.(=) g.140054443G>C - HARS_000004 rs75397255 0.00969 5 516 9560 - - Admin
./. - c.1312-11G>A r.(=) p.(=) g.140054421C>T - HARS_000003 rs1340964519 0.001938 1 516 9481 1 0 Admin
./. - c.1458+7G>A r.(=) p.(=) g.140054257C>T - HARS_000002 rs58302597 0.2 103 516 6744 - - Admin
./. - c.1459-22C>T r.(=) p.(=) g.140053935G>A - HARS_000001 rs192164884 0.003876 2 516 7462 - - Admin
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