Canonical Allele Identifier:
CA13793730
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.43581002 (SAS)
Genomes Max Group AF
0.43581002 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.78976799C>T , CM000675.2:g.78976799C>T | GRCh38 |
| NC_000013.10:g.79550934C>T , CM000675.1:g.79550934C>T | GRCh37 |
| NC_000013.9:g.78448935C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_942108.1:n.244+2846G>A | ||
| XR_942109.1:n.244+2846G>A | ||
| XR_942108.3:n.276+2846G>A |