Canonical Allele Identifier:
CA11169513
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38548194 (AFR)
Genomes Max Group AF
0.38548194 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.195501166T>C , CM000664.2:g.195501166T>C | GRCh38 |
| NC_000002.11:g.196365890T>C , CM000664.1:g.196365890T>C | GRCh37 |
| NC_000002.10:g.196074135T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001739836.1:n.427+45325A>G |