Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67754390T>C , CM000666.2:g.67754390T>C | GRCh38 |
| NC_000004.11:g.68620108T>C , CM000666.1:g.68620108T>C | GRCh37 |
| NC_000004.10:g.68302703T>C | NCBI36 |
| NG_009293.1:g.6697A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_000406.2:c.-55A>G | NP_000397.1:n.-55A>G | |
| NM_001012763.1:c.-55A>G | NP_001012781.1:n.-55A>G |