Linked Data
dbSNP Id:
rs767681714
gnomAD v2:
12-111155052-T-C
gnomAD v3:
12-110717247-T-C
gnomAD v4:
12-110717247-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110717247T>C , CM000674.2:g.110717247T>C | GRCh38 |
| NC_000012.11:g.111155052T>C , CM000674.1:g.111155052T>C | GRCh37 |
| NC_000012.10:g.109639435T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011538504.1:c.944-2100A>G | XP_011536806.1:n.944-2100A>G | |
| XM_011538505.1:c.943+3858A>G | XP_011536807.1:n.943+3858A>G | |
| XM_011538504.3:c.944-2100A>G | XP_011536806.1:n.944-2100A>G | |
| XM_011538505.3:c.943+3858A>G | XP_011536807.1:n.943+3858A>G |