Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110478158C>T , CM000675.2:g.110478158C>T | GRCh38 |
| NC_000013.10:g.111130505C>T , CM000675.1:g.111130505C>T | GRCh37 |
| NC_000013.9:g.109928506C>T | NCBI36 |
| NG_032137.1:g.175875C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360467.7:c.2581C>T MANE Select | ENSP00000353654.5:p.Arg861Cys | |
| ENST00000483683.2:n.211C>T | ||
| ENST00000650225.1:n.236C>T | ||
| ENST00000360467.5:c.2581C>T | ENSP00000353654.5:p.Arg861Cys | |
| ENST00000483683.1:n.236C>T | ||
| NM_001846.2:c.2581C>T | NP_001837.2:p.Arg861Cys | |
| NM_001846.3:c.2581C>T | NP_001837.2:p.Arg861Cys | |
| NM_001846.4:c.2581C>T MANE Select | NP_001837.2:p.Arg861Cys |