Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67754446C>A , CM000666.2:g.67754446C>A | GRCh38 |
| NC_000004.11:g.68620164C>A , CM000666.1:g.68620164C>A | GRCh37 |
| NC_000004.10:g.68302759C>A | NCBI36 |
| NG_009293.1:g.6641G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_000406.2:c.-111G>T | NP_000397.1:n.-111G>T | |
| NM_001012763.1:c.-111G>T | NP_001012781.1:n.-111G>T |