Canonical Allele Identifier:
CA13498512
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.66629228 (EAS)
Genomes Max Group AF
0.66629228 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89157946A>G , CM000673.2:g.89157946A>G | GRCh38 |
| NC_000011.9:g.88891114A>G , CM000673.1:g.88891114A>G | GRCh37 |
| NC_000011.8:g.88530762A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001748321.1:n.2718-44413T>C | ||
| XR_001748322.1:n.2733-44413T>C |