Canonical Allele Identifier:
CA14285525
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.96791223 (EAS)
Genomes Max Group AF
0.96791223 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.71619734A>G , CM000678.2:g.71619734A>G | GRCh38 |
| NC_000016.9:g.71653637A>G , CM000678.1:g.71653637A>G | GRCh37 |
| NC_000016.8:g.70211138A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_933717.1:n.95+1545T>C | ||
| XR_933717.2:n.103+1545T>C |