Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1232241G>A , CM000663.2:g.1232241G>A | GRCh38 |
| NC_000001.10:g.1167621G>A , CM000663.1:g.1167621G>A | GRCh37 |
| NC_000001.9:g.1157484G>A | NCBI36 |
| NG_030007.1:g.4827C>T | |
| NG_033265.1:g.4993G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379198.5:c.-38G>A MANE Select | ENSP00000368496.2:n.-38G>A | |
| NM_080605.4:c.-38G>A MANE Select | NP_542172.2:n.-38G>A |