Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43966945C>T , CM000663.2:g.43966945C>T | GRCh38 |
| NC_000001.10:g.44432617C>T , CM000663.1:g.44432617C>T | GRCh37 |
| NC_000001.9:g.44205204C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014652.4:c.2539C>T MANE Select | NP_055467.3:p.Arg847Trp |
| ENST00000372343.8:c.2539C>T MANE Select | ENSP00000361418.3:p.Arg847Trp |
| NM_014652.3:c.2539C>T | NP_055467.3:p.Arg847Trp |
| ENST00000372339.3:c.193C>T | ENSP00000361414.3:p.Arg65Trp |
| ENST00000372343.7:c.2539C>T | ENSP00000361418.3:p.Arg847Trp |
| XM_011542461.1:c.1636C>T | XP_011540763.1:p.Arg546Trp |
| XM_024451069.1:c.1636C>T | XP_024306837.1:p.Arg546Trp |
| XM_024451070.1:c.1636C>T | XP_024306838.1:p.Arg546Trp |