Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90501257T>A , CM000677.2:g.90501257T>A | GRCh38 |
| NC_000015.9:g.91044489T>A , CM000677.1:g.91044489T>A | GRCh37 |
| NC_000015.8:g.88845493T>A | NCBI36 |
| NG_052946.1:g.118017T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268182.10:c.*1149T>A MANE Select | ENSP00000268182.5:n.*1149T>A | |
| ENST00000268182.9:c.*1149T>A | ENSP00000268182.5:n.*1149T>A | |
| ENST00000558957.1:n.2181T>A | ||
| ENST00000561086.1:n.1890T>A | ||
| NM_003870.3:c.*1149T>A | NP_003861.1:n.*1149T>A | |
| XR_001751409.2:n.6252T>A | ||
| NM_003870.4:c.*1149T>A MANE Select | NP_003861.1:n.*1149T>A |