Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147639254C>A , CM000669.2:g.147639254C>A | GRCh38 |
| NC_000007.13:g.147336346C>A , CM000669.1:g.147336346C>A | GRCh37 |
| NC_000007.12:g.146967279C>A | NCBI36 |
| NG_007092.2:g.1527894C>A | |
| NG_007092.3:g.1528254C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.2046C>A MANE Select | ENSP00000354778.3:p.Cys682Ter | |
| ENST00000636870.1:n.1908C>A | ||
| ENST00000637825.1:n.1529C>A | ||
| ENST00000638117.1:n.1949C>A | ||
| ENST00000361727.7:c.2046C>A | ENSP00000354778.3:p.Cys682Ter | |
| ENST00000627772.2:n.219C>A | ||
| NM_014141.5:c.2046C>A | NP_054860.1:p.Cys682Ter | |
| XM_006715919.1:c.534C>A | XP_006715982.1:p.Cys178Ter | |
| XM_017011950.2:c.2046C>A | XP_016867439.1:p.Cys682Ter | |
| NM_014141.6:c.2046C>A MANE Select | NP_054860.1:p.Cys682Ter |