Canonical Allele Identifier:
CA13188656
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40802995 (EAS)
Genomes Max Group AF
0.40802995 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43318601G>A , CM000672.2:g.43318601G>A | GRCh38 |
| NC_000010.10:g.43814049G>A , CM000672.1:g.43814049G>A | GRCh37 |
| NC_000010.9:g.43134055G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_945902.1:n.108+6G>A | ||
| XR_945902.2:n.198+6G>A |