Canonical Allele Identifier:
CA13673147
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.52603255 (AFR)
Genomes Max Group AF
0.52603255 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.95318100A>C , CM000674.2:g.95318100A>C | GRCh38 |
| NC_000012.11:g.95711876A>C , CM000674.1:g.95711876A>C | GRCh37 |
| NC_000012.10:g.94236007A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636165.1:n.1059-6646T>G |