Canonical Allele Identifier:
CA230077640
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.13170321 (AFR)
Genomes Max Group AF
0.13170321 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116442799G>A , CM000673.2:g.116442799G>A | GRCh38 |
| NC_000011.9:g.116313516G>A , CM000673.1:g.116313516G>A | GRCh37 |
| NC_000011.8:g.115818726G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001748403.1:n.349+31078C>T |