Linked Data
dbSNP Id:
rs60977503
gnomAD v2:
2-217871382-G-A
gnomAD v3:
2-217006659-G-A
gnomAD v4:
2-217006659-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.217006659G>A , CM000664.2:g.217006659G>A | GRCh38 |
| NC_000002.11:g.217871382G>A , CM000664.1:g.217871382G>A | GRCh37 |
| NC_000002.10:g.217579627G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_923881.1:n.299+12641G>A | ||
| XR_923883.1:n.294+12641G>A | ||
| XR_923885.1:n.862+12641G>A | ||
| XR_923886.1:n.358+5554G>A | ||
| XR_923887.1:n.299+12641G>A | ||
| XR_001739169.1:n.11844+12641G>A | ||
| XR_001739170.2:n.8480+12641G>A | ||
| XR_001739171.2:n.8347+12641G>A |