Canonical Allele Identifier:
CA14299784
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.78330642 (EAS)
Genomes Max Group AF
0.78330642 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.60413266A>G , CM000678.2:g.60413266A>G | GRCh38 |
| NC_000016.9:g.60447170A>G , CM000678.1:g.60447170A>G | GRCh37 |
| NC_000016.8:g.59004671A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_243457.2:n.375+48171A>G | ||
| XR_933651.1:n.538+48171A>G | ||
| XR_933652.1:n.601+48171A>G | ||
| XR_933653.1:n.312+48171A>G | ||
| XR_001752229.1:n.538+48171A>G | ||
| XR_001752230.1:n.515+48171A>G | ||
| XR_001752231.1:n.312+48171A>G | ||
| XR_002957906.1:n.803+48171A>G |