Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44293093C>A , CM000683.2:g.44293093C>A | GRCh38 |
| NC_000021.8:g.45712976C>A , CM000683.1:g.45712976C>A | GRCh37 |
| NC_000021.7:g.44537404C>A | NCBI36 |
| NG_009556.1:g.12214C>A , LRG_18:g.12214C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000383.4:c.1196C>A MANE Select | NP_000374.1:p.Ala399Asp |
| ENST00000291582.6:c.1196C>A MANE Select | ENSP00000291582.5:p.Ala399Asp |
| NM_000383.3:c.1196C>A | NP_000374.1:p.Ala399Asp |
| ENST00000291582.5:c.1196C>A | ENSP00000291582.5:p.Ala399Asp |
| ENST00000337909.5:n.657C>A | |
| ENST00000397994.8:n.590-15C>A | |
| ENST00000527919.5:n.1926C>A | |
| ENST00000530812.5:n.2943C>A | |
| XM_011529551.1:c.1193C>A | XP_011527853.1:p.Ala398Asp |