Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46011435G>A , CM000682.2:g.46011435G>A | GRCh38 |
| NC_000020.10:g.44640074G>A , CM000682.1:g.44640074G>A | GRCh37 |
| NC_000020.9:g.44073481G>A | NCBI36 |
| NG_011468.1:g.7528G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372330.3:c.823+119G>A MANE Select | ENSP00000361405.3:n.823+119G>A | |
| NM_004994.2:c.823+119G>A | NP_004985.2:n.823+119G>A | |
| NM_004994.3:c.823+119G>A MANE Select | NP_004985.2:n.823+119G>A |