Canonical Allele Identifier:
CA12738931
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.75353365 (SAS)
Genomes Max Group AF
0.75353365 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.125469233A>T , CM000670.2:g.125469233A>T | GRCh38 |
| NC_000008.10:g.126481475A>T , CM000670.1:g.126481475A>T | GRCh37 |
| NC_000008.9:g.126550657A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_928628.1:n.77+2200A>T |