Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66560637C>A , CM000673.2:g.66560637C>A | GRCh38 |
| NG_013304.2:g.18718C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000513398.2:c.1742C>A MANE Select | ENSP00000426797.1:p.Ala581Asp | |
| ENST00000502692.5:c.1871C>A | ENSP00000422007.1:p.Ala624Asp | |
| ENST00000513398.1:c.1742C>A | ENSP00000426797.1:p.Ala581Asp | |
| NM_001104.3:c.1742C>A | NP_001095.2:p.Ala581Asp | |
| NM_001258371.2:c.1871C>A | NP_001245300.2:p.Ala624Asp | |
| NM_001104.4:c.1742C>A MANE Select | NP_001095.2:p.Ala581Asp | |
| NM_001258371.3:c.1871C>A | NP_001245300.2:p.Ala624Asp |