Linked Data
ClinVar Variation Id:
376522
dbSNP Id:
rs1057519954
COSMIC:
COSM2849892
PubMed:
PMID:26619011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49375465T>C , CM000665.2:g.49375465T>C | GRCh38 |
| NC_000003.11:g.49412898T>C , CM000665.1:g.49412898T>C | GRCh37 |
| NC_000003.10:g.49387902T>C | NCBI36 |
| NG_051308.1:g.41633A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000704381.1:c.125A>G | ENSP00000515884.1:p.Tyr42Cys | |
| ENST00000418115.6:c.125A>G MANE Select | ENSP00000400175.1:p.Tyr42Cys | |
| ENST00000422781.6:c.125A>G | ENSP00000413587.1:p.Tyr42Cys | |
| ENST00000445425.6:c.125A>G | ENSP00000408402.3:p.Tyr42Cys | |
| ENST00000454011.7:c.125A>G | ENSP00000394483.2:p.Tyr42Cys | |
| ENST00000676712.2:c.125A>G | ENSP00000504603.1:p.Tyr42Cys | |
| ENST00000677684.1:c.125A>G | ENSP00000504494.1:p.Tyr42Cys | |
| ENST00000678200.1:c.125A>G | ENSP00000504180.1:p.Tyr42Cys | |
| ENST00000678921.2:c.125A>G | ENSP00000503490.1:p.Tyr42Cys | |
| ENST00000679208.1:c.125A>G | ENSP00000503282.1:p.Tyr42Cys | |
| ENST00000418115.5:c.125A>G | ENSP00000400175.1:p.Tyr42Cys | |
| ENST00000422781.5:c.125A>G | ENSP00000413587.1:p.Tyr42Cys | |
| ENST00000431929.2:n.405A>G | ||
| ENST00000445425.4:c.125A>G | ENSP00000408402.1:p.Tyr42Cys | |
| ENST00000454011.6:c.125A>G | ENSP00000394483.2:p.Tyr42Cys | |
| NM_001313941.1:c.125A>G | NP_001300870.1:p.Tyr42Cys | |
| NM_001313943.1:c.125A>G | NP_001300872.1:p.Tyr42Cys | |
| NM_001313944.1:c.125A>G | NP_001300873.1:p.Tyr42Cys | |
| NM_001313945.1:c.-119A>G | NP_001300874.1:n.-119A>G | |
| NM_001313946.1:c.125A>G | NP_001300875.1:p.Tyr42Cys | |
| NM_001313947.1:c.125A>G | NP_001300876.1:p.Tyr42Cys | |
| NM_001664.2:c.125A>G | NP_001655.1:p.Tyr42Cys | |
| NM_001664.3:c.125A>G | NP_001655.1:p.Tyr42Cys | |
| XM_011533695.1:c.125A>G | XP_011531997.1:p.Tyr42Cys | |
| NM_001664.4:c.125A>G MANE Select | NP_001655.1:p.Tyr42Cys | |
| NM_001313941.2:c.125A>G | NP_001300870.1:p.Tyr42Cys | |
| NM_001313943.2:c.125A>G | NP_001300872.1:p.Tyr42Cys | |
| NM_001313944.2:c.125A>G | NP_001300873.1:p.Tyr42Cys | |
| NM_001313945.2:c.-119A>G | NP_001300874.1:n.-119A>G | |
| NM_001313946.2:c.125A>G | NP_001300875.1:p.Tyr42Cys | |
| NM_001313947.2:c.125A>G | NP_001300876.1:p.Tyr42Cys |