Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.93586307T>G , CM000674.2:g.93586307T>G | GRCh38 |
| NC_000012.11:g.93980083T>G , CM000674.1:g.93980083T>G | GRCh37 |
| NC_000012.10:g.92504214T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011538935.1:c.591+11134T>G | XP_011537237.1:n.591+11134T>G |