Canonical Allele Identifier:
CA12119147
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.49374484 (AFR)
Genomes Max Group AF
0.49374484 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.92558085C>T , CM000667.2:g.92558085C>T | GRCh38 |
| NC_000005.9:g.91893792C>T , CM000667.1:g.91893792C>T | GRCh37 |
| NC_000005.8:g.91919548C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948566.1:n.2393G>A | ||
| XR_948567.1:n.2438G>A | ||
| XR_948568.1:n.2396G>A | ||
| XR_001742809.1:n.2241G>A | ||
| XR_001742810.1:n.2352G>A | ||
| XR_948566.2:n.2386G>A | ||
| XR_948568.2:n.2391G>A |