Canonical Allele Identifier:
CA14808607
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.52777197 (EAS)
Genomes Max Group AF
0.52777197 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.40600144C>T , CM000682.2:g.40600144C>T | GRCh38 |
| NC_000020.10:g.39228784C>T , CM000682.1:g.39228784C>T | GRCh37 |
| NC_000020.9:g.38662198C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_430319.2:n.113-2206G>A | ||
| XR_001754596.1:n.472-2206G>A | ||
| XR_001754597.1:n.409-2206G>A |