Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814740C>T , CM000664.2:g.218814740C>T | GRCh38 |
| NC_000002.11:g.219679463C>T , CM000664.1:g.219679463C>T | GRCh37 |
| NC_000002.10:g.219387707C>T | NCBI36 |
| NG_007959.1:g.37992C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000784.4:c.1459C>T MANE Select | NP_000775.1:p.Gln487Ter |
| ENST00000258415.9:c.1459C>T MANE Select | ENSP00000258415.4:p.Gln487Ter |
| NM_000784.3:c.1459C>T | NP_000775.1:p.Gln487Ter |
| ENST00000258415.8:c.1459C>T | ENSP00000258415.4:p.Gln487Ter |
| ENST00000494263.5:n.2171C>T | |
| XM_017003488.2:c.1039C>T | XP_016858977.1:p.Gln347Ter |