Canonical Allele Identifier:
CA16439563
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.67777579 (EAS)
Genomes Max Group AF
0.67777579 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.26300350A>G , CM000674.2:g.26300350A>G | GRCh38 |
| NC_000012.11:g.26453283A>G , CM000674.1:g.26453283A>G | GRCh37 |
| NC_000012.10:g.26344550A>G | NCBI36 |
| NG_012011.2:g.183360A>G , LRG_209:g.183360A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_931450.1:n.1140-773A>G | ||
| XR_931451.1:n.989-773A>G | ||
| XR_931452.1:n.988+1925A>G | ||
| XR_001749052.1:n.2270-773A>G | ||
| XR_001749053.1:n.2270-773A>G | ||
| XR_931451.2:n.1389-773A>G | ||
| XR_931452.2:n.1388+1925A>G |