Canonical Allele Identifier:
CA246846046
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.59089007 (EAS)
Genomes Max Group AF
0.59089007 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.21619823A>G , CM000675.2:g.21619823A>G | GRCh38 |
| NC_000013.10:g.22193962A>G , CM000675.1:g.22193962A>G | GRCh37 |
| NC_000013.9:g.21091962A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001749772.1:n.321+2650A>G | ||
| XR_001749773.1:n.321+2650A>G |