Canonical Allele Identifier:
CA13204468
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.83298332 (EAS)
Genomes Max Group AF
0.83298332 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114021768T>C , CM000672.2:g.114021768T>C | GRCh38 |
| NC_000010.10:g.115781527T>C , CM000672.1:g.115781527T>C | GRCh37 |
| NC_000010.9:g.115771517T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_946331.1:n.438-737T>C | ||
| XR_946332.1:n.306-737T>C |