Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50486669G>A , CM000684.2:g.50486669G>A | GRCh38 |
| NC_000022.10:g.50925098G>A , CM000684.1:g.50925098G>A | GRCh37 |
| NC_000022.9:g.49271964G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_011530705.1:c.-64-165G>A | XP_011529007.1:n.-64-165G>A |
| XM_011530705.2:c.-64-165G>A | XP_011529007.1:n.-64-165G>A |
| XR_244455.2:n.2401-165G>A |