Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.49890141G>T , CM000684.2:g.49890141G>T | GRCh38 |
| NC_000022.10:g.50283789G>T , CM000684.1:g.50283789G>T | GRCh37 |
| NC_000022.9:g.48669793G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011530369.1:c.1238+14038C>A | XP_011528671.1:n.1238+14038C>A | |
| XM_011530370.1:c.1239-419C>A | XP_011528672.1:n.1239-419C>A | |
| XM_017028936.1:c.1238+14038C>A | XP_016884425.1:n.1238+14038C>A | |
| XM_017028937.1:c.1238+14038C>A | XP_016884426.1:n.1238+14038C>A |