Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109264329C>A , CM000663.2:g.109264329C>A | GRCh38 |
| NC_000001.10:g.109806951C>A , CM000663.1:g.109806951C>A | GRCh37 |
| NC_000001.9:g.109608474C>A | NCBI36 |
| NG_052669.1:g.19625C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271332.4:c.5253C>A MANE Select | ENSP00000271332.3:p.Ala1751= | |
| ENST00000271332.3:c.5253C>A | ENSP00000271332.3:p.Ala1751= | |
| NM_001408.2:c.5253C>A | NP_001399.1:p.Ala1751= | |
| XM_005270580.3:c.5253C>A | XP_005270637.1:p.Ala1751= | |
| NM_001408.3:c.5253C>A MANE Select | NP_001399.1:p.Ala1751= |