Canonical Allele Identifier:
CA162458971
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29262018 (EAS)
Genomes Max Group AF
0.29262018 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87067398A>G , CM000669.2:g.87067398A>G | GRCh38 |
| NC_000007.13:g.86696714A>G , CM000669.1:g.86696714A>G | GRCh37 |
| NC_000007.12:g.86534650A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011516762.1:c.420+6886A>G | XP_011515064.1:n.420+6886A>G | |
| XM_011516763.1:c.420+6886A>G | XP_011515065.1:n.420+6886A>G | |
| XR_002956574.1:n.287+6886A>G | ||
| XR_002956575.1:n.6392+6886A>G | ||
| XR_002956576.1:n.279+6886A>G |