Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110717285G>T , CM000674.2:g.110717285G>T | GRCh38 |
| NC_000012.11:g.111155090G>T , CM000674.1:g.111155090G>T | GRCh37 |
| NC_000012.10:g.109639473G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011538504.1:c.944-2138C>A | XP_011536806.1:n.944-2138C>A | |
| XM_011538505.1:c.943+3820C>A | XP_011536807.1:n.943+3820C>A | |
| XM_011538504.3:c.944-2138C>A | XP_011536806.1:n.944-2138C>A | |
| XM_011538505.3:c.943+3820C>A | XP_011536807.1:n.943+3820C>A |