Linked Data
dbSNP Id:
rs1031771
gnomAD v2:
2-18114932-C-T
gnomAD v3:
2-17933665-C-T
gnomAD v4:
2-17933665-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.17933665C>T , CM000664.2:g.17933665C>T | GRCh38 |
| NC_000002.11:g.18114932C>T , CM000664.1:g.18114932C>T | GRCh37 |
| NC_000002.10:g.17978413C>T | NCBI36 |
| NG_012873.1:g.59988C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000465292.5:n.305+15794C>T |