Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44113025C>A , CM000669.2:g.44113025C>A | GRCh38 |
| NC_000007.13:g.44152624C>A , CM000669.1:g.44152624C>A | GRCh37 |
| NC_000007.12:g.44119149C>A | NCBI36 |
| NG_056775.1:g.13706C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001129.5:c.2604C>A MANE Select | NP_001120.3:p.Cys868Ter |
| ENST00000223357.8:c.2604C>A MANE Select | ENSP00000223357.3:p.Cys868Ter |
| NM_001129.4:c.2604C>A | NP_001120.3:p.Cys868Ter |
| ENST00000223357.7:c.2604C>A | ENSP00000223357.3:p.Cys868Ter |
| ENST00000413907.1:c.1001C>A | |
| ENST00000450684.2:c.1329C>A | ENSP00000398878.2:p.Cys443Ter |
| XM_011515162.1:c.2526C>A | XP_011513464.1:p.Cys842Ter |