Canonical Allele Identifier:
CA12216412
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.42782794 (EAS)
Genomes Max Group AF
0.42782794 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160668785G>A , CM000668.2:g.160668785G>A | GRCh38 |
| NC_000006.11:g.161089817G>A , CM000668.1:g.161089817G>A | GRCh37 |
| NC_000006.10:g.161009807G>A | NCBI36 |
| NG_016147.1:g.2591C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452651.1:n.115-2412C>T |