Canonical Allele Identifier:
CA241652765
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.60007345 (EAS)
Genomes Max Group AF
0.60007345 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.90049705A>G , CM000674.2:g.90049705A>G | GRCh38 |
| NC_000012.11:g.90443482A>G , CM000674.1:g.90443482A>G | GRCh37 |
| NC_000012.10:g.88967613A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_945179.1:n.1199-17291A>G | ||
| XR_945180.1:n.174-17291A>G | ||
| XR_001749246.1:n.1029-17291A>G |