Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.259905C>A , CM000669.2:g.259905C>A | GRCh38 |
| NC_000007.13:g.299871C>A , CM000669.1:g.299871C>A | GRCh37 |
| NG_033970.1:g.69541C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020223.4:c.1680C>A MANE Select | NP_064608.2:p.Cys560Ter |
| ENST00000313766.6:c.1680C>A MANE Select | ENSP00000322323.5:p.Cys560Ter |
| NM_020223.3:c.1680C>A | NP_064608.2:p.Cys560Ter |
| ENST00000313766.5:c.1680C>A | ENSP00000322323.5:p.Cys560Ter |
| ENST00000515795.1:n.1337C>A | |
| XM_017012450.1:c.1941C>A | XP_016867939.1:p.Cys647Ter |
| XM_017012451.1:c.1938C>A | XP_016867940.1:p.Cys646Ter |
| XM_017012455.2:c.978C>A | XP_016867944.1:p.Cys326Ter |
| XR_242097.3:n.1827C>A |