Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56043455C>T , CM000674.2:g.56043455C>T | GRCh38 |
| NC_000012.11:g.56437239C>T , CM000674.1:g.56437239C>T | GRCh37 |
| NC_000012.10:g.54723506C>T | NCBI36 |
| NG_023201.1:g.6554C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356464.10:c.274C>T | ENSP00000348849.5:p.Arg92Cys | |
| ENST00000646449.2:c.274C>T MANE Select | ENSP00000496643.1:p.Arg92Cys | |
| ENST00000356464.9:c.274C>T | ENSP00000348849.5:p.Arg92Cys | |
| ENST00000548590.1:n.1061C>T | ||
| ENST00000552361.1:c.274C>T | ENSP00000450339.1:p.Arg92Cys | |
| NM_001029.3:c.274C>T | NP_001020.2:p.Arg92Cys | |
| NM_001029.5:c.274C>T MANE Select | NP_001020.2:p.Arg92Cys |