Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26280162G>T , CM000663.2:g.26280162G>T | GRCh38 |
| NC_000001.10:g.26606653G>T , CM000663.1:g.26606653G>T | GRCh37 |
| NC_000001.9:g.26479240G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270792.10:c.7G>T MANE Select | ENSP00000270792.5:p.Gly3Cys | |
| ENST00000270792.9:c.7G>T | ENSP00000270792.5:p.Gly3Cys | |
| ENST00000319041.6:c.7G>T | ENSP00000363358.3:p.Gly3Cys | |
| ENST00000614679.2:c.406G>T | ENSP00000479107.1:p.Gly136Cys | |
| NM_031286.3:c.7G>T | NP_112576.1:p.Gly3Cys | |
| NM_031286.4:c.7G>T MANE Select | NP_112576.1:p.Gly3Cys |