Linked Data
dbSNP Id:
rs1342734840
gnomAD v2:
2-217905857-G-A
gnomAD v3:
2-217041134-G-A
gnomAD v4:
2-217041134-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.217041134G>A , CM000664.2:g.217041134G>A | GRCh38 |
| NC_000002.11:g.217905857G>A , CM000664.1:g.217905857G>A | GRCh37 |
| NC_000002.10:g.217614102G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_923881.1:n.299+47116G>A | ||
| XR_923883.1:n.294+47116G>A | ||
| XR_923885.1:n.862+47116G>A | ||
| XR_923886.1:n.359-14057G>A | ||
| XR_923887.1:n.300-14057G>A | ||
| XR_001739169.1:n.11844+47116G>A | ||
| XR_001739170.2:n.8480+47116G>A | ||
| XR_001739171.2:n.8347+47116G>A | ||
| XR_923878.2:n.7447G>A |