Canonical Allele Identifier:
CA13970910
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.74662451 (EAS)
Genomes Max Group AF
0.74662451 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.98203821A>C , CM000676.2:g.98203821A>C | GRCh38 |
| NC_000014.8:g.98670158A>C , CM000676.1:g.98670158A>C | GRCh37 |
| NC_000014.7:g.97739911A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001750875.1:n.1120-654T>G |