Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57565369C>A , CM000682.2:g.57565369C>A | GRCh38 |
| NC_000020.10:g.56140425C>A , CM000682.1:g.56140425C>A | GRCh37 |
| NC_000020.9:g.55573831C>A | NCBI36 |
| NG_008205.1:g.9289C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.1434C>A MANE Select | ENSP00000319814.4:p.Asp478Glu | |
| ENST00000319441.5:c.1434C>A | ENSP00000319814.4:p.Asp478Glu | |
| ENST00000467047.1:n.4076C>A | ||
| ENST00000485958.1:n.558C>A | ||
| NM_002591.3:c.1434C>A | NP_002582.3:p.Asp478Glu | |
| XM_011528839.1:c.1038C>A | XP_011527141.1:p.Asp346Glu | |
| XM_024451888.1:c.1038C>A | XP_024307656.1:p.Asp346Glu | |
| NM_002591.4:c.1434C>A MANE Select | NP_002582.3:p.Asp478Glu |