Canonical Allele Identifier:
CA12363601
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.56268135 (SAS)
Genomes Max Group AF
0.56268135 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.134398929G>A , CM000668.2:g.134398929G>A | GRCh38 |
| NC_000006.11:g.134720067G>A , CM000668.1:g.134720067G>A | GRCh37 |
| NC_000006.10:g.134761760G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_428023.2:n.23+200G>A |