Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73332248G>T , CM000677.2:g.73332248G>T | GRCh38 |
| NC_000015.9:g.73624589G>T , CM000677.1:g.73624589G>T | GRCh37 |
| NC_000015.8:g.71411642G>T | NCBI36 |
| NG_009063.1:g.42017C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.1254C>A MANE Select | ENSP00000261917.3:p.Ile418= | |
| ENST00000261917.3:c.1254C>A | ENSP00000261917.3:p.Ile418= | |
| NM_005477.2:c.1254C>A | NP_005468.1:p.Ile418= | |
| XM_011521148.1:c.36C>A | XP_011519450.1:p.Ile12= | |
| XM_011521148.2:c.36C>A | XP_011519450.1:p.Ile12= | |
| NM_005477.3:c.1254C>A MANE Select | NP_005468.1:p.Ile418= |