Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68440989G>T , CM000663.2:g.68440989G>T | GRCh38 |
| NC_000001.10:g.68906672G>T , CM000663.1:g.68906672G>T | GRCh37 |
| NC_000001.9:g.68679260G>T | NCBI36 |
| NG_008472.1:g.13971C>A | |
| NG_008472.2:g.13971C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000329.3:c.507C>A MANE Select | NP_000320.1:p.Cys169Ter |
| ENST00000262340.6:c.507C>A MANE Select | ENSP00000262340.5:p.Cys169Ter |
| NM_000329.2:c.507C>A | NP_000320.1:p.Cys169Ter |
| ENST00000262340.5:c.507C>A | ENSP00000262340.5:p.Cys169Ter |
| XM_017002027.1:c.231C>A | XP_016857516.1:p.Cys77Ter |