Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.144401211G>A , CM000669.2:g.144401211G>A | GRCh38 |
| NC_000007.13:g.144098304G>A , CM000669.1:g.144098304G>A | GRCh37 |
| NC_000007.12:g.143729237G>A | NCBI36 |
| NG_028979.1:g.14017C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643164.1:c.38-899C>T | ENSP00000495343.1:n.38-899C>T | |
| ENST00000645489.1:c.424C>T | ENSP00000496732.1:p.Arg142Cys | |
| ENST00000467773.1:c.679C>T MANE Select | ENSP00000419457.1:p.Arg227Cys | |
| ENST00000483238.5:c.679C>T | ENSP00000419565.1:p.Arg227Cys | |
| NM_001080413.3:c.679C>T MANE Select | NP_001073882.3:p.Arg227Cys | |
| XM_011515791.1:c.424C>T | XP_011514093.1:p.Arg142Cys | |
| XM_017011742.2:c.679C>T | XP_016867231.1:p.Arg227Cys |