Linked Data
dbSNP Id:
rs1057315444
gnomAD v2:
1-214261275-C-A
gnomAD v3:
1-214087932-C-A
gnomAD v4:
1-214087932-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.214087932C>A , CM000663.2:g.214087932C>A | GRCh38 |
| NC_000001.10:g.214261275C>A , CM000663.1:g.214261275C>A | GRCh37 |
| NC_000001.9:g.212327898C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011510303.1:c.-188-15494G>T | XP_011508605.1:n.-188-15494G>T | |
| XR_922584.1:n.119-15494G>T | ||
| XR_922584.2:n.261-15494G>T |