Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68670666A>G , CM000666.2:g.68670666A>G | GRCh38 |
| NC_000004.11:g.69536384A>G , CM000666.1:g.69536384A>G | GRCh37 |
| NC_000004.10:g.69218979A>G | NCBI36 |
| NG_052676.1:g.5111T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001076.3:c.-48T>C | NP_001067.2:n.-48T>C |