Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57562865C>A , CM000682.2:g.57562865C>A | GRCh38 |
| NC_000020.10:g.56137921C>A , CM000682.1:g.56137921C>A | GRCh37 |
| NC_000020.9:g.55571327C>A | NCBI36 |
| NG_008205.1:g.6785C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.576C>A MANE Select | ENSP00000319814.4:p.Cys192Ter | |
| ENST00000319441.5:c.576C>A | ENSP00000319814.4:p.Cys192Ter | |
| ENST00000467047.1:n.1786C>A | ||
| ENST00000470051.1:n.32C>A | ||
| ENST00000498194.1:n.518C>A | ||
| NM_002591.3:c.576C>A | NP_002582.3:p.Cys192Ter | |
| XM_011528839.1:c.180C>A | XP_011527141.1:p.Cys60Ter | |
| XM_024451888.1:c.180C>A | XP_024307656.1:p.Cys60Ter | |
| NM_002591.4:c.576C>A MANE Select | NP_002582.3:p.Cys192Ter |