Canonical Allele Identifier:
CA13204381
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.089659 (NFE)
Genomes Max Group AF
0.089659 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.113479005C>G , CM000672.2:g.113479005C>G | GRCh38 |
| NC_000010.10:g.115238764C>G , CM000672.1:g.115238764C>G | GRCh37 |
| NC_000010.9:g.115228754C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001747590.2:n.8524C>G |