Canonical Allele Identifier:
CA214693406
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.97171441 (EAS)
Genomes Max Group AF
0.97171441 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.113475355T>C , CM000672.2:g.113475355T>C | GRCh38 |
| NC_000010.10:g.115235114T>C , CM000672.1:g.115235114T>C | GRCh37 |
| NC_000010.9:g.115225104T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001747590.2:n.6093-1219T>C |