Linked Data
dbSNP Id:
rs948282723
gnomAD v2:
18-56117191-A-G
gnomAD v3:
18-58449959-A-G
gnomAD v4:
18-58449959-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.58449959A>G , CM000680.2:g.58449959A>G | GRCh38 |
| NC_000018.9:g.56117191A>G , CM000680.1:g.56117191A>G | GRCh37 |
| NC_000018.8:g.54268171A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001753465.2:n.1198A>G | ||
| NR_170243.1:n.307+419A>G | ||
| NR_170244.1:n.307+419A>G | ||
| NR_170245.1:n.307+419A>G |