Canonical Allele Identifier:
CA15968191
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.43184074 (EAS)
Genomes Max Group AF
0.43184074 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.40640434T>C , CM000682.2:g.40640434T>C | GRCh38 |
| NC_000020.10:g.39269074T>C , CM000682.1:g.39269074T>C | GRCh37 |
| NC_000020.9:g.38702488T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001754596.1:n.165+100A>G | ||
| XR_001754597.1:n.180+3477A>G |