Canonical Allele Identifier:
CA14067414
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.17768573 (EAS)
Genomes Max Group AF
0.17768573 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.36530844A>G , CM000676.2:g.36530844A>G | GRCh38 |
| NC_000014.8:g.37000049A>G , CM000676.1:g.37000049A>G | GRCh37 |
| NC_000014.7:g.36069800A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_943753.1:n.2090+5636A>G | ||
| XR_943754.1:n.2090+5636A>G | ||
| XR_001750715.1:n.2105+5636A>G |