Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.173019501T>C , CM000665.2:g.173019501T>C | GRCh38 |
| NC_000003.11:g.172737291T>C , CM000665.1:g.172737291T>C | GRCh37 |
| NC_000003.10:g.174219985T>C | NCBI36 |
| NG_021422.1:g.126768A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351008.4:c.833A>G MANE Select | ENSP00000341765.3:p.Tyr278Cys | |
| ENST00000351008.3:c.833A>G | ENSP00000341765.3:p.Tyr278Cys | |
| NM_031955.5:c.833A>G | NP_114161.3:p.Tyr278Cys | |
| XM_006713778.2:c.833A>G | XP_006713841.1:p.Tyr278Cys | |
| XM_011513222.1:c.833A>G | XP_011511524.1:p.Tyr278Cys | |
| XM_006713778.3:c.833A>G | XP_006713841.1:p.Tyr278Cys | |
| XM_017007308.2:c.833A>G | XP_016862797.1:p.Tyr278Cys | |
| NM_031955.6:c.833A>G MANE Select | NP_114161.3:p.Tyr278Cys |