Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.100418061C>T , CM000674.2:g.100418061C>T | GRCh38 |
| NC_000012.11:g.100811839C>T , CM000674.1:g.100811839C>T | GRCh37 |
| NC_000012.10:g.99335970C>T | NCBI36 |
| NG_021175.1:g.65983C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_139319.3:c.1330C>T MANE Select | NP_647480.1:p.Arg444Cys |
| ENST00000323346.10:c.1330C>T MANE Select | ENSP00000316909.4:p.Arg444Cys |
| NM_001145288.1:c.1180C>T | NP_001138760.1:p.Arg394Cys |
| NM_001145288.2:c.1180C>T | NP_001138760.1:p.Arg394Cys |
| NM_139319.2:c.1330C>T | NP_647480.1:p.Arg444Cys |
| ENST00000323346.9:c.1330C>T | ENSP00000316909.4:p.Arg444Cys |
| ENST00000392989.3:c.1180C>T | ENSP00000376715.3:p.Arg394Cys |
| ENST00000552697.1:n.223C>T |