Canonical Allele Identifier:
CA214886253
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.19919572 (EAS)
Genomes Max Group AF
0.19919572 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.121148705T>C , CM000672.2:g.121148705T>C | GRCh38 |
| NC_000010.10:g.122908219T>C , CM000672.1:g.122908219T>C | GRCh37 |
| NC_000010.9:g.122898209T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_946379.1:n.286-3343T>C | ||
| XR_946379.2:n.357-3343T>C |