Canonical Allele Identifier:
CA220194635
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1689287 (SAS)
Genomes Max Group AF
0.1689287 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.30751774T>C , CM000673.2:g.30751774T>C | GRCh38 |
| NC_000011.9:g.30773321T>C , CM000673.1:g.30773321T>C | GRCh37 |
| NC_000011.8:g.30729897T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_242862.2:n.166+10188T>C | ||
| XR_001748483.1:n.1129+10188T>C | ||
| XR_242862.4:n.1129+10188T>C |