Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110717604G>A , CM000674.2:g.110717604G>A | GRCh38 |
| NC_000012.11:g.111155409G>A , CM000674.1:g.111155409G>A | GRCh37 |
| NC_000012.10:g.109639792G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011538504.1:c.944-2457C>T | XP_011536806.1:n.944-2457C>T | |
| XM_011538505.1:c.943+3501C>T | XP_011536807.1:n.943+3501C>T | |
| XM_011538504.3:c.944-2457C>T | XP_011536806.1:n.944-2457C>T | |
| XM_011538505.3:c.943+3501C>T | XP_011536807.1:n.943+3501C>T |