Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65868556G>A , CM000673.2:g.65868556G>A | GRCh38 |
| NC_000011.9:g.65636027G>A , CM000673.1:g.65636027G>A | GRCh37 |
| NC_000011.8:g.65392603G>A | NCBI36 |
| NG_012304.2:g.9379C>T | |
| NG_053116.1:g.13495G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307998.11:c.801C>T MANE Select | ENSP00000309953.6:p.Cys267= | |
| ENST00000307998.10:c.801C>T | ENSP00000309953.6:p.Cys267= | |
| ENST00000526628.5:n.1367C>T | ||
| ENST00000527969.1:n.1486C>T | ||
| ENST00000528176.5:c.801C>T | ENSP00000434151.1:p.Cys267= | |
| ENST00000531005.5:n.1795C>T | ||
| ENST00000531972.5:c.801C>T | ENSP00000435295.1:p.Cys267= | |
| ENST00000532084.5:n.227C>T | ||
| NM_016938.4:c.801C>T | NP_058634.4:p.Cys267= | |
| NR_037718.1:n.1060C>T | ||
| NM_016938.5:c.801C>T MANE Select | NP_058634.4:p.Cys267= | |
| NR_037718.2:n.926C>T |