Canonical Allele Identifier:
CA155949119
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00011248 (AFR)
Genomes Max Group AF
0.00011248 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.25952206T>G , CM000669.2:g.25952206T>G | GRCh38 |
| NC_000007.13:g.25991826T>G , CM000669.1:g.25991826T>G | GRCh37 |
| NC_000007.12:g.25958351T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_927114.1:n.1492-12745A>C | ||
| XR_927120.1:n.1228-12745A>C | ||
| XR_927122.1:n.718-12745A>C | ||
| XR_927114.2:n.1519-12745A>C | ||
| XR_927120.2:n.1256-12745A>C | ||
| XR_927122.2:n.750-12745A>C |