Canonical Allele Identifier:
CA16205661
Gene:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38230295 (AFR)
Genomes Max Group AF
0.38230295 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.148731458C>G , CM000666.2:g.148731458C>G | GRCh38 |
| NC_000004.11:g.149652610C>G , CM000666.1:g.149652610C>G | GRCh37 |
| NC_000004.10:g.149872060C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001741441.1:n.1746-135299C>G |