Canonical Allele Identifier:
CA15252722
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.25596426 (EAS)
Genomes Max Group AF
0.25596426 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.146170670T>G , CM000665.2:g.146170670T>G | GRCh38 |
| NC_000003.11:g.145888457T>G , CM000665.1:g.145888457T>G | GRCh37 |
| NC_000003.10:g.147371147T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_924563.1:n.1225A>C | ||
| XR_001740949.1:n.1114A>C | ||
| XR_001740950.1:n.1079A>C | ||
| XR_001740951.1:n.1140A>C | ||
| XR_001740952.1:n.961A>C | ||
| XR_001740953.1:n.1265A>C | ||
| XR_924563.2:n.1232A>C |