Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.58782725G>A , CM000663.2:g.58782725G>A | GRCh38 |
| NC_000001.10:g.59248397G>A , CM000663.1:g.59248397G>A | GRCh37 |
| NC_000001.9:g.59020985G>A | NCBI36 |
| NG_047027.1:g.6389C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710273.1:c.412C>T | ENSP00000518166.1:p.Arg138Cys | |
| ENST00000371222.4:c.346C>T MANE Select | ENSP00000360266.2:p.Arg116Cys | |
| ENST00000678696.1:c.346C>T | ENSP00000503132.1:p.Arg116Cys | |
| ENST00000371222.3:c.346C>T | ENSP00000360266.2:p.Arg116Cys | |
| NM_002228.3:c.346C>T | NP_002219.1:p.Arg116Cys | |
| NM_002228.4:c.346C>T MANE Select | NP_002219.1:p.Arg116Cys |