Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2171925T>G , CM000673.2:g.2171925T>G | GRCh38 |
| NC_000011.9:g.2193155T>G , CM000673.1:g.2193155T>G | GRCh37 |
| NC_000011.8:g.2149731T>G | NCBI36 |
| NG_008128.1:g.4881A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011520335.1:c.-139A>C | XP_011518637.1:n.-139A>C | |
| XM_011520335.2:c.-139A>C | XP_011518637.1:n.-139A>C |