Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.228158497C>T , CM000663.2:g.228158497C>T | GRCh38 |
| NC_000001.10:g.228346198C>T , CM000663.1:g.228346198C>T | GRCh37 |
| NC_000001.9:g.226412821C>T | NCBI36 |
| NG_011838.1:g.13646C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366714.3:c.739C>T MANE Select | ENSP00000355675.2:p.Arg247Cys | |
| ENST00000366714.2:c.739C>T | ENSP00000355675.2:p.Arg247Cys | |
| NM_020435.3:c.739C>T | NP_065168.2:p.Arg247Cys | |
| NM_020435.4:c.739C>T MANE Select | NP_065168.2:p.Arg247Cys |