Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67754528C>T , CM000666.2:g.67754528C>T | GRCh38 |
| NC_000004.11:g.68620246C>T , CM000666.1:g.68620246C>T | GRCh37 |
| NC_000004.10:g.68302841C>T | NCBI36 |
| NG_009293.1:g.6559G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_000406.2:c.-193G>A | NP_000397.1:n.-193G>A | |
| NM_001012763.1:c.-193G>A | NP_001012781.1:n.-193G>A |