Canonical Allele Identifier:
CA208803711
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33143838 (EAS)
Genomes Max Group AF
0.33143838 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.64688715T>C , CM000672.2:g.64688715T>C | GRCh38 |
| NC_000010.10:g.66448472T>C , CM000672.1:g.66448472T>C | GRCh37 |
| NC_000010.9:g.66118478T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_946016.1:n.134-2727T>C | ||
| XR_946017.1:n.83-2727T>C |