Canonical Allele Identifier:
CA13609538
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.43132558 (EAS)
Genomes Max Group AF
0.43132558 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.131529661A>C , CM000674.2:g.131529661A>C | GRCh38 |
| NC_000012.11:g.132014206A>C , CM000674.1:g.132014206A>C | GRCh37 |
| NC_000012.10:g.130580159A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_945564.1:n.1076+114T>G | ||
| XR_001749407.2:n.1067+114T>G |