Canonical Allele Identifier:
CA13777755
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.82938504 (NFE)
Genomes Max Group AF
0.82938504 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102518780G>A , CM000674.2:g.102518780G>A | GRCh38 |
| NC_000012.11:g.102912558G>A , CM000674.1:g.102912558G>A | GRCh37 |
| NC_000012.10:g.101436688G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001749289.1:n.1952+34892G>A |