Canonical Allele Identifier:
CA43480810
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40961112 (EAS)
Genomes Max Group AF
0.40961112 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.18953470A>G , CM000664.2:g.18953470A>G | GRCh38 |
| NC_000002.11:g.19134748A>G , CM000664.1:g.19134748A>G | GRCh37 |
| NC_000002.10:g.18998229A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_939775.1:n.555+9568A>G |