Canonical Allele Identifier:
CA13481712
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.66256702 (AFR)
Genomes Max Group AF
0.66256702 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.34784302A>G , CM000673.2:g.34784302A>G | GRCh38 |
| NC_000011.9:g.34805849A>G , CM000673.1:g.34805849A>G | GRCh37 |
| NC_000011.8:g.34762425A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_428897.2:n.579+29695A>G | ||
| XR_931188.1:n.693+29695A>G | ||
| XR_931189.1:n.854+29695A>G | ||
| XR_931190.1:n.639+29695A>G | ||
| XR_931191.1:n.689+29695A>G | ||
| XR_001748174.1:n.855+29695A>G | ||
| XR_001748176.1:n.1016+29695A>G | ||
| XR_002957246.1:n.639+29695A>G |