Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.14894191G>A , CM000673.2:g.14894191G>A | GRCh38 |
| NC_000011.9:g.14915737G>A , CM000673.1:g.14915737G>A | GRCh37 |
| NC_000011.8:g.14872313G>A | NCBI36 |
| NG_007936.1:g.3015C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011519898.3:c.-1947C>T | XP_011518200.1:n.-1947C>T |