Canonical Allele Identifier:
CA11014768
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.64711357 (EAS)
Genomes Max Group AF
0.64711357 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.60341610A>T , CM000664.2:g.60341610A>T | GRCh38 |
| NC_000002.11:g.60568745A>T , CM000664.1:g.60568745A>T | GRCh37 |
| NC_000002.10:g.60422249A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_940134.1:n.987+1207T>A |