Canonical Allele Identifier:
CA13615659
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.42965176 (NFE)
Genomes Max Group AF
0.42965176 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.20320824C>A , CM000674.2:g.20320824C>A | GRCh38 |
| NC_000012.11:g.20473758C>A , CM000674.1:g.20473758C>A | GRCh37 |
| NC_000012.10:g.20365025C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_931419.1:n.154G>T | ||
| XR_931419.2:n.250G>T |