Canonical Allele Identifier:
CA97347059
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.97708315 (EAS)
Genomes Max Group AF
0.97708315 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.53794991A>G , CM000666.2:g.53794991A>G | GRCh38 |
| NC_000004.11:g.54661158A>G , CM000666.1:g.54661158A>G | GRCh37 |
| NC_000004.10:g.54355915A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507166.5:c.1017+369026A>G | ENSP00000423325.1:n.1017+369026A>G |