Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23868298A>G , CM000663.2:g.23868298A>G | GRCh38 |
| NC_000001.10:g.24194788A>G , CM000663.1:g.24194788A>G | GRCh37 |
| NC_000001.9:g.24067375A>G | NCBI36 |
| NG_013346.1:g.5072T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000147.4:c.-12T>C | NP_000138.2:n.-12T>C |
| XM_005245821.3:c.-561T>C | XP_005245878.1:n.-561T>C |