Canonical Allele Identifier:
CA15779690
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38211978 (EAS)
Genomes Max Group AF
0.38211978 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.107127968G>A , CM000675.2:g.107127968G>A | GRCh38 |
| NC_000013.10:g.107780316G>A , CM000675.1:g.107780316G>A | GRCh37 |
| NC_000013.9:g.106578317G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_931710.1:n.1184+2134C>T | ||
| XR_931711.1:n.753+3004G>A | ||
| XR_931712.1:n.342+3004G>A |