Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.234231518C>T , CM000663.2:g.234231518C>T | GRCh38 |
| NC_000001.10:g.234367264C>T , CM000663.1:g.234367264C>T | GRCh37 |
| NC_000001.9:g.232433887C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173508.4:c.385C>T MANE Select | NP_775779.1:p.Arg129Trp |
| ENST00000366618.8:c.385C>T MANE Select | ENSP00000355577.3:p.Arg129Trp |
| NM_001300845.1:c.178C>T | NP_001287774.1:p.Arg60Trp |
| NM_001300845.2:c.178C>T | NP_001287774.1:p.Arg60Trp |
| NM_173508.3:c.385C>T | NP_775779.1:p.Arg129Trp |
| ENST00000366617.3:c.178C>T | ENSP00000355576.3:p.Arg60Trp |
| ENST00000366618.7:c.385C>T | ENSP00000355577.3:p.Arg129Trp |