Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67755832G>A , CM000666.2:g.67755832G>A | GRCh38 |
| NC_000004.11:g.68621550G>A , CM000666.1:g.68621550G>A | GRCh37 |
| NC_000004.10:g.68304145G>A | NCBI36 |
| NG_009293.1:g.5255C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000406.2:c.-1497C>T | NP_000397.1:n.-1497C>T |
| NM_001012763.1:c.-1497C>T | NP_001012781.1:n.-1497C>T |