Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57206198C>A , CM000674.2:g.57206198C>A | GRCh38 |
| NC_000012.11:g.57599981C>A , CM000674.1:g.57599981C>A | GRCh37 |
| NC_000012.10:g.55886248C>A | NCBI36 |
| NG_016444.1:g.82700C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002332.3:c.11591-275C>A MANE Select | NP_002323.2:n.11591-275C>A |
| ENST00000243077.8:c.11591-275C>A MANE Select | ENSP00000243077.3:n.11591-275C>A |
| NM_002332.2:c.11591-275C>A | NP_002323.2:n.11591-275C>A |
| ENST00000243077.7:c.11591-275C>A | ENSP00000243077.3:n.11591-275C>A |
| ENST00000556356.1:n.1791-275C>A | |
| XM_017019303.1:c.11642-275C>A | XP_016874792.1:n.11642-275C>A |