Canonical Allele Identifier:
CA619977241
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006842 (EAS)
Genomes Max Group AF
0.00006842 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.96062683C>A , CM000677.2:g.96062683C>A | GRCh38 |
| NC_000015.9:g.96605912C>A , CM000677.1:g.96605912C>A | GRCh37 |
| NC_000015.8:g.94406916C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_002957737.1:n.450+71799C>A |