Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.1480333G>A , CM000669.2:g.1480333G>A | GRCh38 |
| NC_000007.13:g.1519969G>A , CM000669.1:g.1519969G>A | GRCh37 |
| NC_000007.12:g.1486495G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404767.8:c.4058C>T MANE Select | ENSP00000385722.3:p.Ala1353Val | |
| ENST00000404767.7:c.4058C>T | ENSP00000385722.3:p.Ala1353Val | |
| NM_001080453.2:c.4058C>T | NP_001073922.2:p.Ala1353Val | |
| XM_011515260.1:c.4058C>T | XP_011513562.1:p.Ala1353Val | |
| XM_017011959.1:c.4058C>T | XP_016867448.1:p.Ala1353Val | |
| XM_017011960.1:c.4058C>T | XP_016867449.1:p.Ala1353Val | |
| XR_001744624.1:n.4050+502C>T | ||
| NM_001080453.3:c.4058C>T MANE Select | NP_001073922.2:p.Ala1353Val |