Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.1478482G>A , CM000669.2:g.1478482G>A | GRCh38 |
| NC_000007.13:g.1518118G>A , CM000669.1:g.1518118G>A | GRCh37 |
| NC_000007.12:g.1484644G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001080453.3:c.4514C>T MANE Select | NP_001073922.2:p.Ala1505Val |
| ENST00000404767.8:c.4514C>T MANE Select | ENSP00000385722.3:p.Ala1505Val |
| NM_001080453.2:c.4514C>T | NP_001073922.2:p.Ala1505Val |
| ENST00000404767.7:c.4514C>T | ENSP00000385722.3:p.Ala1505Val |
| XM_011515260.1:c.4514C>T | XP_011513562.1:p.Ala1505Val |
| XM_017011959.1:c.4514C>T | XP_016867448.1:p.Ala1505Val |
| XM_017011960.1:c.4514C>T | XP_016867449.1:p.Ala1505Val |
| XR_001744624.1:n.4490C>T |