Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11934716C>G , CM000663.2:g.11934716C>G | GRCh38 |
| NC_000001.10:g.11994773C>G , CM000663.1:g.11994773C>G | GRCh37 |
| NC_000001.9:g.11917360C>G | NCBI36 |
| NG_008159.1:g.5028C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000302.3:c.-64C>G | NP_000293.2:n.-64C>G |
| NM_001316320.1:c.-64C>G | NP_001303249.1:n.-64C>G |
| ENST00000449038.5:c.-64C>G | ENSP00000414443.1:n.-64C>G |
| ENST00000485046.5:n.119+393C>G |