Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.14894289G>T , CM000673.2:g.14894289G>T | GRCh38 |
| NC_000011.9:g.14915835G>T , CM000673.1:g.14915835G>T | GRCh37 |
| NC_000011.8:g.14872411G>T | NCBI36 |
| NG_007936.1:g.2917C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011519898.3:c.-2045C>A | XP_011518200.1:n.-2045C>A |