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