Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270233T>A , CM000668.2:g.31270233T>A | GRCh38 |
| NC_000006.11:g.31238010T>A , CM000668.1:g.31238010T>A | GRCh37 |
| NC_000006.10:g.31345989T>A | NCBI36 |
| NG_029422.2:g.6899A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002117.6:c.872A>T MANE Select | NP_002108.4:p.Gln291Leu |
| ENST00000376228.10:c.872A>T MANE Select | ENSP00000365402.5:p.Gln291Leu |
| NM_002117.5:c.872A>T | NP_002108.4:p.Gln291Leu |
| ENST00000376228.9:c.872A>T | ENSP00000365402.5:p.Gln291Leu |
| ENST00000376237.8:c.*459A>T | ENSP00000365412.4:n.*459A>T |
| ENST00000383329.7:c.872A>T | ENSP00000372819.3:p.Gln291Leu |
| ENST00000415537.1:c.763A>T | |
| ENST00000470363.5:n.190A>T | |
| ENST00000487245.5:n.1231A>T | |
| ENST00000495835.1:n.1061A>T |