Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38146039G>A , CM000670.2:g.38146039G>A | GRCh38 |
| NC_000008.10:g.38003557G>A , CM000670.1:g.38003557G>A | GRCh37 |
| NC_000008.9:g.38122714G>A | NCBI36 |
| NG_011827.1:g.10044C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000349.3:c.574C>T MANE Select | NP_000340.2:p.Arg192Cys |
| ENST00000276449.9:c.574C>T MANE Select | ENSP00000276449.3:p.Arg192Cys |
| NM_000349.2:c.574C>T | NP_000340.2:p.Arg192Cys |
| ENST00000276449.8:c.574C>T | ENSP00000276449.3:p.Arg192Cys |
| ENST00000520114.1:n.1061C>T | |
| ENST00000522050.1:c.510C>T | |
| XM_006716392.1:c.574C>T | XP_006716455.1:p.Arg192Cys |