Canonical Allele Identifier:
CA12558256
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41086388 (SAS)
Genomes Max Group AF
0.41086388 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.25831489C>T , CM000669.2:g.25831489C>T | GRCh38 |
| NC_000007.13:g.25871109C>T , CM000669.1:g.25871109C>T | GRCh37 |
| NC_000007.12:g.25837634C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_108752.3:n.418G>A | ||
| XR_927108.1:n.392G>A | ||
| XR_927109.1:n.474G>A | ||
| XR_927110.1:n.378G>A | ||
| XR_108752.4:n.432G>A | ||
| XR_927110.2:n.557G>A |