All transcript variants in gene IBA57

Information The variants shown are described using the NM_001010867.2 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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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.134G>C r.(?) p.(Gly45Ala) g.228353651G>C - IBA57_000001 rs55873785 0.345 178 516 6617 - - Admin
./. - c.264C>G r.(=) p.(=) g.228353781C>G - IBA57_000002 rs13375853 0.003876 2 516 9532 - - Admin
./. - c.342-87G>A r.(=) p.(=) g.228362306G>A - IBA57_000003 rs74931164 0.014 7 516 5755 - - Admin
./. - c.342-47C>T r.(=) p.(=) g.228362346C>T - IBA57_000004 rs370277134 0.001938 1 516 8106 - - Admin
./. - c.342-36G>A r.(=) p.(=) g.228362357G>A - IBA57_000005 rs374967019 0.001938 1 516 8427 1 0 Admin
./. - c.342-29G>A r.(=) p.(=) g.228362364G>A - IBA57_000006 rs116455781 0.003876 2 516 8645 - - Admin
./. - c.462C>T r.(=) p.(=) g.228362513C>T - IBA57_000007 rs148398789 0.001938 1 516 9495 - - Admin
./. - c.631G>A r.(?) p.(Gly211Ser) g.228362682G>A - IBA57_000008 rs2298014 0.298 154 516 11060 - - Admin
./. - c.679+35A>T r.(=) p.(=) g.228362765A>T - IBA57_000009 rs1398502161 0.001938 1 516 10003 1 0 Admin
./. - c.680-34A>G r.(=) p.(=) g.228362789A>G - IBA57_000010 rs202207985 0.005814 3 516 10032 - - Admin
./. - c.*19G>A r.(=) p.(=) g.228363233G>A - IBA57_000011 rs56137152 0.005814 3 516 5063 - - Admin
./. - c.*31G>A r.(=) p.(=) g.228363245G>A - IBA57_000012 rs56832724 0.005814 3 516 4367 - - Admin
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