Canonical Allele Identifier:
CA13180951
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.60416737 (EAS)
Genomes Max Group AF
0.60416737 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.8930055G>A , CM000672.2:g.8930055G>A | GRCh38 |
| NC_000010.10:g.8972018G>A , CM000672.1:g.8972018G>A | GRCh37 |
| NC_000010.9:g.9012024G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_930641.1:n.32+135308C>T |