Canonical Allele Identifier:
CA13583781
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.19880812 (NFE)
Genomes Max Group AF
0.19880812 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.27812217C>T , CM000674.2:g.27812217C>T | GRCh38 |
| NC_000012.11:g.27965150C>T , CM000674.1:g.27965150C>T | GRCh37 |
| NC_000012.10:g.27856417C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_931459.1:n.237-816G>A | ||
| XR_001749449.1:n.197-816G>A | ||
| XR_931459.2:n.222-816G>A |