Canonical Allele Identifier:
CA15428219
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33896132 (EAS)
Genomes Max Group AF
0.33896132 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29854484G>A , CM000668.2:g.29854484G>A | GRCh38 |
| NC_000006.11:g.29822261G>A , CM000668.1:g.29822261G>A | GRCh37 |
| NC_000006.10:g.29930240G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647952.1:n.2156-1998C>T | ||
| XR_926680.1:n.42-1998C>T | ||
| XR_926681.1:n.42-1998C>T | ||
| XR_926682.1:n.42-1998C>T | ||
| XR_926680.2:n.42-1998C>T | ||
| XR_926681.2:n.42-1998C>T | ||
| XR_926682.2:n.42-1998C>T |