Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269577G>T , CM000668.2:g.31269577G>T | GRCh38 |
| NC_000006.11:g.31237354G>T , CM000668.1:g.31237354G>T | GRCh37 |
| NC_000006.10:g.31345333G>T | NCBI36 |
| NG_029422.2:g.7555C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.1016-52C>A MANE Select | ENSP00000365402.5:n.1016-52C>A | |
| ENST00000376228.9:c.1016-52C>A | ENSP00000365402.5:n.1016-52C>A | |
| ENST00000376237.8:c.*603-52C>A | ENSP00000365412.4:n.*603-52C>A | |
| ENST00000383329.7:c.1016-34C>A | ENSP00000372819.3:n.1016-34C>A | |
| ENST00000466892.5:n.90C>A | ||
| ENST00000470363.5:n.722C>A | ||
| ENST00000487245.5:n.1375-52C>A | ||
| NM_002117.5:c.1016-52C>A | NP_002108.4:n.1016-52C>A | |
| NM_002117.6:c.1016-52C>A MANE Select | NP_002108.4:n.1016-52C>A |