Canonical Allele Identifier:
CA223837468
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.37083802 (NFE)
Genomes Max Group AF
0.37083802 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64329761A>G , CM000673.2:g.64329761A>G | GRCh38 |
| NC_000011.9:g.64097233A>G , CM000673.1:g.64097233A>G | GRCh37 |
| NC_000011.8:g.63853809A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_428944.2:n.265-2225T>C | ||
| XR_950191.1:n.252-2225T>C | ||
| XR_950192.1:n.519-2225T>C | ||
| XR_950193.1:n.639-2225T>C | ||
| XR_950194.1:n.289T>C | ||
| XR_001748257.1:n.306-2225T>C | ||
| XR_428944.3:n.281-2225T>C | ||
| XR_950191.2:n.257-2225T>C | ||
| XR_950194.2:n.318T>C |