Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107696035C>A , CM000669.2:g.107696035C>A | GRCh38 |
| NC_000007.13:g.107336480C>A , CM000669.1:g.107336480C>A | GRCh37 |
| NC_000007.12:g.107123716C>A | NCBI36 |
| NG_008489.1:g.40401C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644269.2:c.1540C>A MANE Select | ENSP00000494017.1:p.Gln514Lys | |
| ENST00000644846.1:c.251C>A | ||
| ENST00000265715.7:c.1540C>A | ENSP00000265715.3:p.Gln514Lys | |
| ENST00000477350.5:n.387C>A | ||
| ENST00000480841.5:n.389C>A | ||
| ENST00000497446.5:n.555C>A | ||
| NM_000441.1:c.1540C>A | NP_000432.1:p.Gln514Lys | |
| XM_005250425.1:c.1540C>A | XP_005250482.1:p.Gln514Lys | |
| XM_005250425.2:c.1540C>A | XP_005250482.1:p.Gln514Lys | |
| XM_017012318.1:c.1462C>A | XP_016867807.1:p.Gln488Lys | |
| NM_000441.2:c.1540C>A MANE Select | NP_000432.1:p.Gln514Lys |