Canonical Allele Identifier:
CA275015092
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.59445552 (EAS)
Genomes Max Group AF
0.59445552 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.87419456T>C , CM000677.2:g.87419456T>C | GRCh38 |
| NC_000015.9:g.87962687T>C , CM000677.1:g.87962687T>C | GRCh37 |
| NC_000015.8:g.85763691T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_932584.1:n.340-185A>G | ||
| XR_932585.1:n.340-185A>G | ||
| XR_001751647.1:n.617-185A>G | ||
| XR_932585.2:n.627-185A>G |