Canonical Allele Identifier:
CA14774668
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.43103358 (EAS)
Genomes Max Group AF
0.43103358 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.40642176C>T , CM000682.2:g.40642176C>T | GRCh38 |
| NC_000020.10:g.39270816C>T , CM000682.1:g.39270816C>T | GRCh37 |
| NC_000020.9:g.38704230C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001754597.1:n.180+1735G>A |