Canonical Allele Identifier:
CA281436296
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.05192634 (AFR)
Genomes Max Group AF
0.05192634 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.55655175C>A , CM000678.2:g.55655175C>A | GRCh38 |
| NC_000016.9:g.55689087C>A , CM000678.1:g.55689087C>A | GRCh37 |
| NC_000016.8:g.54246588C>A | NCBI36 |
| NG_016969.1:g.4546C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_933603.1:n.54+424G>T |