Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2304529G>A , CM000663.2:g.2304529G>A | GRCh38 |
| NC_000001.10:g.2235968G>A , CM000663.1:g.2235968G>A | GRCh37 |
| NC_000001.9:g.2225828G>A | NCBI36 |
| NG_013084.1:g.80835G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003036.4:c.1711G>A MANE Select | NP_003027.1:p.Val571Met |
| ENST00000378536.5:c.1711G>A MANE Select | ENSP00000367797.4:p.Val571Met |
| NM_003036.3:c.1711G>A | NP_003027.1:p.Val571Met |
| ENST00000378536.4:c.1711G>A | ENSP00000367797.4:p.Val571Met |
| XM_005244775.2:c.1717G>A | XP_005244832.1:p.Val573Met |
| XM_005244775.3:c.1717G>A | XP_005244832.1:p.Val573Met |
| XM_005244776.3:c.847G>A | XP_005244833.1:p.Val283Met |
| XM_005244776.4:c.847G>A | XP_005244833.1:p.Val283Met |
| XM_017002128.1:c.1225G>A | XP_016857617.1:p.Val409Met |