Canonical Allele Identifier:
CA122448099
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.22577518 (EAS)
Genomes Max Group AF
0.22577518 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.87136800T>C , CM000667.2:g.87136800T>C | GRCh38 |
| NC_000005.9:g.86432617T>C , CM000667.1:g.86432617T>C | GRCh37 |
| NC_000005.8:g.86468373T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_105018.1:n.48-654T>C |