Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269539A>T , CM000668.2:g.31269539A>T | GRCh38 |
| NC_000006.11:g.31237316A>T , CM000668.1:g.31237316A>T | GRCh37 |
| NC_000006.10:g.31345295A>T | NCBI36 |
| NG_029422.2:g.7593T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.1016-14T>A MANE Select | ENSP00000365402.5:n.1016-14T>A | |
| ENST00000376228.9:c.1016-14T>A | ENSP00000365402.5:n.1016-14T>A | |
| ENST00000376237.8:c.*603-14T>A | ENSP00000365412.4:n.*603-14T>A | |
| ENST00000383329.7:c.1020T>A | ENSP00000372819.3:p.His340Gln | |
| ENST00000466892.5:n.128T>A | ||
| ENST00000470363.5:n.760T>A | ||
| ENST00000487245.5:n.1375-14T>A | ||
| NM_002117.5:c.1016-14T>A | NP_002108.4:n.1016-14T>A | |
| NM_002117.6:c.1016-14T>A MANE Select | NP_002108.4:n.1016-14T>A |