Linked Data
dbSNP Id:
rs1242095324
gnomAD v2:
12-111155627-G-C
gnomAD v3:
12-110717822-G-C
gnomAD v4:
12-110717822-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110717822G>C , CM000674.2:g.110717822G>C | GRCh38 |
| NC_000012.11:g.111155627G>C , CM000674.1:g.111155627G>C | GRCh37 |
| NC_000012.10:g.109640010G>C | NCBI36 |
| NG_030325.1:g.30157C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011538504.1:c.944-2675C>G | XP_011536806.1:n.944-2675C>G | |
| XM_011538505.1:c.943+3283C>G | XP_011536807.1:n.943+3283C>G | |
| XM_011538504.3:c.944-2675C>G | XP_011536806.1:n.944-2675C>G | |
| XM_011538505.3:c.943+3283C>G | XP_011536807.1:n.943+3283C>G |