Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.180917004C>T , CM000663.2:g.180917004C>T | GRCh38 |
| NC_000001.10:g.180886140C>T , CM000663.1:g.180886140C>T | GRCh37 |
| NC_000001.9:g.179152763C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020950.2:c.901C>T MANE Select | NP_066001.1:p.Arg301Cys |
| ENST00000367588.9:c.901C>T MANE Select | ENSP00000356560.4:p.Arg301Cys |
| NM_020950.1:c.901C>T | NP_066001.1:p.Arg301Cys |
| ENST00000367588.8:c.901C>T | ENSP00000356560.4:p.Arg301Cys |