Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.37715081C>A , CM000683.2:g.37715081C>A | GRCh38 |
| NC_000021.8:g.39087384C>A , CM000683.1:g.39087384C>A | GRCh37 |
| NC_000021.7:g.38009254C>A | NCBI36 |
| NG_029892.2:g.206313G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609713.2:c.76G>T MANE Select | ENSP00000477437.1:p.Ala26Ser | |
| ENST00000645093.1:c.76G>T | ENSP00000493772.1:p.Ala26Ser | |
| ENST00000609713.1:c.76G>T | ENSP00000477437.1:p.Ala26Ser | |
| NM_002240.3:c.76G>T | NP_002231.1:p.Ala26Ser | |
| NM_002240.4:c.76G>T | NP_002231.1:p.Ala26Ser | |
| XM_011529558.1:c.76G>T | XP_011527860.1:p.Ala26Ser | |
| XM_011529559.1:c.76G>T | XP_011527861.1:p.Ala26Ser | |
| NM_002240.5:c.76G>T MANE Select | NP_002231.1:p.Ala26Ser |