Canonical Allele Identifier:
CA14261235
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.46813257 (EAS)
Genomes Max Group AF
0.46813257 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.9288472A>G , CM000678.2:g.9288472A>G | GRCh38 |
| NC_000016.9:g.9382329A>G , CM000678.1:g.9382329A>G | GRCh37 |
| NC_000016.8:g.9289830A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_933053.1:n.84+1220A>G | ||
| XR_933054.1:n.70+103739A>G | ||
| XR_933057.1:n.84+1220A>G | ||
| XR_001752073.1:n.896+1220A>G | ||
| XR_933053.2:n.914+1220A>G |