Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270363G>A , CM000668.2:g.31270363G>A | GRCh38 |
| NC_000006.11:g.31238140G>A , CM000668.1:g.31238140G>A | GRCh37 |
| NC_000006.10:g.31346119G>A | NCBI36 |
| NG_029422.2:g.6769C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.742C>T MANE Select | ENSP00000365402.5:p.Gln248Ter | |
| ENST00000376228.9:c.742C>T | ENSP00000365402.5:p.Gln248Ter | |
| ENST00000376237.8:c.*329C>T | ENSP00000365412.4:n.*329C>T | |
| ENST00000383329.7:c.742C>T | ENSP00000372819.3:p.Gln248Ter | |
| ENST00000415537.1:c.665-32C>T | ||
| ENST00000470363.5:n.60C>T | ||
| ENST00000487245.5:n.1101C>T | ||
| ENST00000495835.1:n.931C>T | ||
| NM_002117.5:c.742C>T | NP_002108.4:p.Gln248Ter | |
| NM_002117.6:c.742C>T MANE Select | NP_002108.4:p.Gln248Ter |