Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122496768C>A , CM000672.2:g.122496768C>A | GRCh38 |
| NC_000010.10:g.124256284C>A , CM000672.1:g.124256284C>A | GRCh37 |
| NC_000010.9:g.124246274C>A | NCBI36 |
| NG_011554.1:g.40244C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.777+7142C>A MANE Select | ENSP00000357980.3:n.777+7142C>A | |
| ENST00000648167.1:c.459+7142C>A | ENSP00000498033.1:n.459+7142C>A | |
| ENST00000368984.7:c.777+7142C>A | ENSP00000357980.3:n.777+7142C>A | |
| NM_002775.4:c.777+7142C>A | NP_002766.1:n.777+7142C>A | |
| NM_002775.5:c.777+7142C>A MANE Select | NP_002766.1:n.777+7142C>A |