Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.155939784C>T , CM000685.2:g.155939784C>T | GRCh38 |
| NC_000023.10:g.155169448C>T , CM000685.1:g.155169448C>T | GRCh37 |
| NC_000023.9:g.154822642C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286448.12:c.585C>T MANE Select | ENSP00000286448.6:p.Ile195= | |
| ENST00000262640.11:c.517C>T | ENSP00000262640.6:p.Arg173Cys | |
| ENST00000286448.11:c.585C>T | ENSP00000286448.6:p.Ile195= | |
| ENST00000460621.6:c.462C>T | ENSP00000427822.1:p.Ile154= | |
| ENST00000463317.6:n.667C>T | ||
| ENST00000479687.6:n.706C>T | ||
| ENST00000488344.6:c.*347C>T | ENSP00000430039.1:n.*347C>T | |
| XM_011531188.1:c.376C>T | XP_011529490.1:p.Arg126Cys | |
| XM_017029760.1:c.444C>T | XP_016885249.1:p.Ile148= |