Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.93586312T>G , CM000674.2:g.93586312T>G | GRCh38 |
| NC_000012.11:g.93980088T>G , CM000674.1:g.93980088T>G | GRCh37 |
| NC_000012.10:g.92504219T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_011538935.1:c.591+11139T>G | XP_011537237.1:n.591+11139T>G |