Canonical Allele Identifier:
CA15896964
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.97514141 (EAS)
Genomes Max Group AF
0.97514141 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50211709C>A , CM000679.2:g.50211709C>A | GRCh38 |
| NC_000017.10:g.48289070C>A , CM000679.1:g.48289070C>A | GRCh37 |
| NC_000017.9:g.45644069C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_934838.1:n.43-2126C>A |