Canonical Allele Identifier:
CA39361680
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.36719158 (AFR)
Genomes Max Group AF
0.36719158 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.232886124C>G , CM000663.2:g.232886124C>G | GRCh38 |
| NC_000001.10:g.233021870C>G , CM000663.1:g.233021870C>G | GRCh37 |
| NC_000001.9:g.231088493C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_247101.3:n.371-9548C>G | ||
| XR_949278.1:n.747-9548C>G | ||
| XR_949279.1:n.371-9548C>G | ||
| XR_949280.1:n.371-9548C>G | ||
| XR_949281.1:n.371-9548C>G | ||
| XR_247101.4:n.473-9548C>G | ||
| XR_949278.3:n.963-9548C>G | ||
| XR_949279.3:n.481-9548C>G | ||
| XR_949280.2:n.477-9548C>G | ||
| XR_949281.2:n.477-9548C>G |