Canonical Allele Identifier:
CA14445662
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.37559267 (SAS)
Genomes Max Group AF
0.37559267 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.13830489C>T , CM000679.2:g.13830489C>T | GRCh38 |
| NC_000017.10:g.13733806C>T , CM000679.1:g.13733806C>T | GRCh37 |
| NC_000017.9:g.13674531C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_934240.1:n.118-3892G>A | ||
| XR_934241.1:n.118-3892G>A | ||
| XR_934242.1:n.187+49813G>A | ||
| XR_001752794.1:n.288-3892G>A | ||
| XR_001752796.1:n.288-3892G>A | ||
| XR_001752797.1:n.221-3892G>A |