Canonical Allele Identifier:
CA15686709
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.54697392 (EAS)
Genomes Max Group AF
0.54697392 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128455658T>C , CM000673.2:g.128455658T>C | GRCh38 |
| NC_000011.9:g.128325553T>C , CM000673.1:g.128325553T>C | GRCh37 |
| NC_000011.8:g.127830763T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948164.1:n.4378T>C | ||
| XR_948165.1:n.3467+911T>C |