Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.1623156C>A , CM000685.2:g.1623156C>A | GRCh38 |
| NC_000023.10:g.1742049C>A , CM000685.1:g.1742049C>A | GRCh37 |
| NC_000023.9:g.1702049C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000381241.9:c.87C>A MANE Select | ENSP00000370639.3:p.Cys29Ter |
| ENST00000381229.9:c.87C>A | ENSP00000370627.4:p.Cys29Ter |
| ENST00000381233.8:c.87C>A | ENSP00000370631.3:p.Cys29Ter |
| ENST00000381241.8:c.87C>A | ENSP00000370639.3:p.Cys29Ter |