Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67754448G>A , CM000666.2:g.67754448G>A | GRCh38 |
| NC_000004.11:g.68620166G>A , CM000666.1:g.68620166G>A | GRCh37 |
| NC_000004.10:g.68302761G>A | NCBI36 |
| NG_009293.1:g.6639C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_000406.2:c.-113C>T | NP_000397.1:n.-113C>T | |
| NM_001012763.1:c.-113C>T | NP_001012781.1:n.-113C>T |