Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.640851C>T , CM000685.2:g.640851C>T | GRCh38 |
| NC_000023.10:g.601586C>T , CM000685.1:g.601586C>T | GRCh37 |
| NC_000023.9:g.521586C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000686671.1:c.517C>T MANE Select | ENSP00000508521.1:p.Arg173Cys |
| ENST00000334060.8:c.517C>T | ENSP00000335505.3:p.Arg173Cys |
| ENST00000381575.6:c.517C>T | ENSP00000370987.1:p.Arg173Cys |
| ENST00000381578.6:c.517C>T | ENSP00000370990.1:p.Arg173Cys |
| ENST00000554971.6:c.517C>T | ENSP00000452016.1:p.Arg173Cys |