Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230279318G>A , CM000663.2:g.230279318G>A | GRCh38 |
| NC_000001.10:g.230415064G>A , CM000663.1:g.230415064G>A | GRCh37 |
| NC_000001.9:g.228481687G>A | NCBI36 |
| NG_011854.1:g.217109G>A | |
| NG_011854.2:g.226530G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366672.5:c.1576G>A MANE Select | ENSP00000355632.4:p.Glu526Lys | |
| ENST00000366672.4:c.1576G>A | ENSP00000355632.4:p.Glu526Lys | |
| ENST00000485438.1:n.1228G>A | ||
| NM_001291866.1:c.1462G>A | NP_001278795.1:p.Glu488Lys | |
| NM_004481.4:c.1576G>A | NP_004472.1:p.Glu526Lys | |
| XM_011544154.1:c.1504G>A | XP_011542456.1:p.Glu502Lys | |
| XM_011544155.1:c.1375G>A | XP_011542457.1:p.Glu459Lys | |
| NM_004481.5:c.1576G>A MANE Select | NP_004472.1:p.Glu526Lys | |
| NM_001291866.2:c.1462G>A | NP_001278795.1:p.Glu488Lys |