Canonical Allele Identifier:
CA14500710
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.79654664 (AMR)
Genomes Max Group AF
0.79654664 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42438011T>G , CM000679.2:g.42438011T>G | GRCh38 |
| NC_000017.10:g.40590029T>G , CM000679.1:g.40590029T>G | GRCh37 |
| NC_000017.9:g.37843555T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_934762.1:n.632+1619T>G | ||
| XR_934763.1:n.550+1619T>G | ||
| XR_934765.1:n.382+1619T>G | ||
| XR_001752890.2:n.453+1619T>G | ||
| XR_002958124.1:n.508+1619T>G | ||
| XR_934762.2:n.680+1619T>G | ||
| XR_934765.2:n.384+1619T>G |