Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109275216T>G , CM000663.2:g.109275216T>G | GRCh38 |
| NC_000001.10:g.109817838T>G , CM000663.1:g.109817838T>G | GRCh37 |
| NC_000001.9:g.109619361T>G | NCBI36 |
| NG_052669.1:g.30512T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271332.4:c.*1167T>G MANE Select | ENSP00000271332.3:n.*1167T>G | |
| ENST00000271332.3:c.*1167T>G | ENSP00000271332.3:n.*1167T>G | |
| ENST00000498157.1:n.3289T>G | ||
| NM_001408.2:c.*1167T>G | NP_001399.1:n.*1167T>G | |
| XM_005270580.3:c.*1034T>G | XP_005270637.1:n.*1034T>G | |
| NM_001408.3:c.*1167T>G MANE Select | NP_001399.1:n.*1167T>G |