Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.37540752G>A , CM000663.2:g.37540752G>A | GRCh38 |
| NC_000001.10:g.38006353G>A , CM000663.1:g.38006353G>A | GRCh37 |
| NC_000001.9:g.37778940G>A | NCBI36 |
| NG_032170.1:g.18593C>T | |
| NG_032170.2:g.18593C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024700.4:c.331C>T MANE Select | NP_078976.2:p.Arg111Cys |
| ENST00000296215.8:c.331C>T MANE Select | ENSP00000296215.5:p.Arg111Cys |
| NM_024700.3:c.331C>T | NP_078976.2:p.Arg111Cys |
| ENST00000296215.6:c.331C>T | ENSP00000296215.5:p.Arg111Cys |
| ENST00000468040.1:n.331C>T | |
| ENST00000468040.2:c.*105C>T | ENSP00000492185.1:n.*105C>T |
| ENST00000638725.1:n.843C>T | |
| XM_011542160.1:c.88C>T | XP_011540462.1:p.Arg30Cys |