Transcript #00005743

Transcript name coagulation factor XII (Hageman factor)
Gene name F12 (coagulation factor XII)
Chromosome 5
Transcript - NCBI ID NM_000505.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000496.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

43 entries on 1 page. Showing entries 1 - 43.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-12C>T r.(=) p.(=)
./. - c.-4T>C r.(=) p.(=)
./. - c.52C>T r.(?) p.(Leu18Phe)
./. - c.57+11T>A r.(=) p.(=)
./. - c.57+46G>T r.(=) p.(=)
./. - c.57+133C>A r.(=) p.(=)
./. - c.58-180C>G r.(=) p.(=)
./. - c.115G>A r.(?) p.(Val39Ile)
./. - c.116-209G>A r.(=) p.(=)
./. - c.116-199C>T r.(=) p.(=)
./. - c.116-194T>C r.(=) p.(=)
./. - c.116-165T>G r.(=) p.(=)
./. - c.116-156C>T r.(=) p.(=)
./. - c.116-154C>T r.(=) p.(=)
./. - c.116-145C>G r.(=) p.(=)
./. - c.116-126C>T r.(=) p.(=)
./. - c.116-29A>C r.(=) p.(=)
./. - c.397+29G>T r.(=) p.(=)
./. - c.398-56G>A r.(=) p.(=)
./. - c.398-12C>T r.(=) p.(=)
./. - c.418C>G r.(?) p.(Leu140Val)
./. - c.530-65A>G r.(=) p.(=)
./. - c.614C>T r.(?) p.(Thr205Ile)
./. - c.619G>C r.(?) p.(Ala207Pro)
./. - c.711C>T r.(=) p.(=)
./. - c.756C>T r.(=) p.(=)
./. - c.1018+19del r.(=) p.(=)
./. - c.1018+19dup r.(=) p.(=)
./. - c.1019-28T>C r.(=) p.(=)
./. - c.1025C>T r.(?) p.(Pro342Leu)
./. - c.1251-74C>T r.(=) p.(=)
./. - c.1251-16C>T r.(=) p.(=)
./. - c.1251-9C>T r.(=) p.(=)
./. - c.1272G>C r.(=) p.(=)
./. - c.1329C>T r.(=) p.(=)
./. - c.1342C>T r.(?) p.(Arg448Cys)
./. - c.1387+31G>A r.(=) p.(=)
./. - c.1388-35C>T r.(=) p.(=)
./. - c.1437G>T r.(=) p.(=)
./. - c.1532-41G>A r.(=) p.(=)
./. - c.1681-7G>A r.(=) p.(=)
./. - c.1791C>T r.(=) p.(=)
./. - c.*107G>C r.(=) p.(=)
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