Canonical Allele Identifier:
CA13572339
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.20797296 (SAS)
Genomes Max Group AF
0.20797296 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.81143332C>A , CM000673.2:g.81143332C>A | GRCh38 |
| NC_000011.9:g.80854375C>A , CM000673.1:g.80854375C>A | GRCh37 |
| NC_000011.8:g.80532023C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_247272.2:n.46+109594G>T |