Canonical Allele Identifier:
CA13443268
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33206389 (NFE)
Genomes Max Group AF
0.33206389 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64340005T>C , CM000673.2:g.64340005T>C | GRCh38 |
| NC_000011.9:g.64107477T>C , CM000673.1:g.64107477T>C | GRCh37 |
| NC_000011.8:g.63864053T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_428944.2:n.159A>G | ||
| XR_950191.1:n.146A>G | ||
| XR_950192.1:n.153A>G | ||
| XR_950193.1:n.159A>G | ||
| XR_428944.3:n.175A>G | ||
| XR_950191.2:n.151A>G |