Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17392054G>A , CM000663.2:g.17392054G>A | GRCh38 |
| NG_032943.1:g.24809G>A | |
| NG_032943.2:g.24809G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619609.1:c.963-60G>A MANE Select | ENSP00000483125.1:n.963-60G>A | |
| NM_207421.4:c.963-60G>A MANE Select | NP_997304.3:n.963-60G>A |