Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.228149860A>G , CM000663.2:g.228149860A>G | GRCh38 |
| NC_000001.10:g.228337561A>G , CM000663.1:g.228337561A>G | GRCh37 |
| NC_000001.9:g.226404184A>G | NCBI36 |
| NG_011838.1:g.5009A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020435.3:c.-167A>G | NP_065168.2:n.-167A>G |
| ENST00000366714.2:c.-167A>G | ENSP00000355675.2:n.-167A>G |