Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147639254C>T , CM000669.2:g.147639254C>T | GRCh38 |
| NC_000007.13:g.147336346C>T , CM000669.1:g.147336346C>T | GRCh37 |
| NC_000007.12:g.146967279C>T | NCBI36 |
| NG_007092.2:g.1527894C>T | |
| NG_007092.3:g.1528254C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014141.6:c.2046C>T MANE Select | NP_054860.1:p.Cys682= |
| ENST00000361727.8:c.2046C>T MANE Select | ENSP00000354778.3:p.Cys682= |
| NM_014141.5:c.2046C>T | NP_054860.1:p.Cys682= |
| ENST00000361727.7:c.2046C>T | ENSP00000354778.3:p.Cys682= |
| ENST00000627772.2:n.219C>T | |
| ENST00000636870.1:n.1908C>T | |
| ENST00000637825.1:n.1529C>T | |
| ENST00000638117.1:n.1949C>T | |
| XM_006715919.1:c.534C>T | XP_006715982.1:p.Cys178= |
| XM_017011950.2:c.2046C>T | XP_016867439.1:p.Cys682= |