Canonical Allele Identifier:
CA14879070
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.35740847 (SAS)
Genomes Max Group AF
0.35740847 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.33035869C>T , CM000683.2:g.33035869C>T | GRCh38 |
| NC_000021.8:g.34408177C>T , CM000683.1:g.34408177C>T | GRCh37 |
| NC_000021.7:g.33330047C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_937672.1:n.89+242C>T | ||
| XR_937673.1:n.172+40C>T | ||
| XR_937672.3:n.289+242C>T | ||
| XR_937673.2:n.120+40C>T |