Canonical Allele Identifier:
CA10729227
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.90101491 (EAS)
Genomes Max Group AF
0.90101491 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.72346757G>A , CM000663.2:g.72346757G>A | GRCh38 |
| NC_000001.10:g.72812440G>A , CM000663.1:g.72812440G>A | GRCh37 |
| NC_000001.9:g.72585028G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_947505.1:n.310+63352G>A | ||
| XR_947506.1:n.310+63352G>A | ||
| XR_947507.1:n.310+63352G>A | ||
| XR_001737670.1:n.414+63352G>A | ||
| XR_001737671.2:n.418+63352G>A | ||
| XR_947505.2:n.414+63352G>A | ||
| XR_947506.2:n.414+63352G>A |