Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.93586320T>A , CM000674.2:g.93586320T>A | GRCh38 |
| NC_000012.11:g.93980096T>A , CM000674.1:g.93980096T>A | GRCh37 |
| NC_000012.10:g.92504227T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011538935.1:c.591+11147T>A | XP_011537237.1:n.591+11147T>A |