Canonical Allele Identifier:
CA13854365
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.64330176 (NFE)
Genomes Max Group AF
0.64330176 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20557072C>A , CM000675.2:g.20557072C>A | GRCh38 |
| NC_000013.10:g.21131211C>A , CM000675.1:g.21131211C>A | GRCh37 |
| NC_000013.9:g.20029211C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_941721.1:n.556-1103G>T | ||
| XR_941722.1:n.556-1103G>T | ||
| XR_941723.1:n.556-1103G>T | ||
| XR_941724.1:n.545-1103G>T | ||
| XR_941725.1:n.562-1103G>T | ||
| XR_941726.1:n.656-1103G>T | ||
| XR_941721.3:n.556-1103G>T | ||
| XR_941722.3:n.556-1103G>T | ||
| XR_941723.3:n.556-1103G>T | ||
| XR_941724.3:n.545-1103G>T | ||
| XR_941725.2:n.562-1103G>T | ||
| XR_941726.2:n.655-1103G>T |