Canonical Allele Identifier:
CA14758879
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16462413 (AFR)
Genomes Max Group AF
0.16462413 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.47796832G>T , CM000682.2:g.47796832G>T | GRCh38 |
| NC_000020.10:g.46425576G>T , CM000682.1:g.46425576G>T | GRCh37 |
| NC_000020.9:g.45858983G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001754648.2:n.224-1625G>T |