Canonical Allele Identifier:
CA13667994
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.5853031 (AFR)
Genomes Max Group AF
0.5853031 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.54197920T>C , CM000674.2:g.54197920T>C | GRCh38 |
| NC_000012.11:g.54591704T>C , CM000674.1:g.54591704T>C | GRCh37 |
| NC_000012.10:g.52877971T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_944983.1:n.367-2540T>C | ||
| XR_944984.1:n.194-2540T>C |