Canonical Allele Identifier:
CA11932888
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.2626776 (EAS)
Genomes Max Group AF
0.2626776 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.73981078A>C , CM000667.2:g.73981078A>C | GRCh38 |
| NC_000005.9:g.73276903A>C , CM000667.1:g.73276903A>C | GRCh37 |
| NC_000005.8:g.73312659A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948475.1:n.260-1287A>C | ||
| XR_001742745.1:n.1598-1287A>C | ||
| XR_001742746.1:n.340-1287A>C |