Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6778885C>A , CM000682.2:g.6778885C>A | GRCh38 |
| NC_000020.10:g.6759532C>A , CM000682.1:g.6759532C>A | GRCh37 |
| NC_000020.9:g.6707532C>A | NCBI36 |
| NG_023233.1:g.15788C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378827.5:c.987C>A MANE Select | ENSP00000368104.3:p.Cys329Ter | |
| ENST00000378827.4:c.987C>A | ENSP00000368104.3:p.Cys329Ter | |
| NM_001200.2:c.987C>A | NP_001191.1:p.Cys329Ter | |
| XM_011529323.1:c.519C>A | XP_011527625.1:p.Cys173Ter | |
| NM_001200.3:c.987C>A | NP_001191.1:p.Cys329Ter | |
| NM_001200.4:c.987C>A MANE Select | NP_001191.1:p.Cys329Ter |