Canonical Allele Identifier:
CA322581525
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007911 (NFE)
Genomes Max Group AF
0.00007911 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23891811G>T , CM000684.2:g.23891811G>T | GRCh38 |
| NC_000022.10:g.24233998G>T , CM000684.1:g.24233998G>T | GRCh37 |
| NC_000022.9:g.22563998G>T | NCBI36 |
| NG_012099.1:g.2434G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433835.3:c.432-2961G>T | ENSP00000400325.3:n.432-2961G>T |