Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66560619C>A , CM000673.2:g.66560619C>A | GRCh38 |
| NG_013304.2:g.18700C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000513398.2:c.1724C>A MANE Select | ENSP00000426797.1:p.Ala575Asp | |
| ENST00000502692.5:c.1853C>A | ENSP00000422007.1:p.Ala618Asp | |
| ENST00000513398.1:c.1724C>A | ENSP00000426797.1:p.Ala575Asp | |
| NM_001104.3:c.1724C>A | NP_001095.2:p.Ala575Asp | |
| NM_001258371.2:c.1853C>A | NP_001245300.2:p.Ala618Asp | |
| NM_001104.4:c.1724C>A MANE Select | NP_001095.2:p.Ala575Asp | |
| NM_001258371.3:c.1853C>A | NP_001245300.2:p.Ala618Asp |