Canonical Allele Identifier:
CA106425092
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.9766834 (EAS)
Genomes Max Group AF
0.9766834 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.134616564T>C , CM000666.2:g.134616564T>C | GRCh38 |
| NC_000004.11:g.135537719T>C , CM000666.1:g.135537719T>C | GRCh37 |
| NC_000004.10:g.135757169T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_939212.1:n.411-23016T>C | ||
| XR_939214.1:n.393-23016T>C | ||
| XR_939214.2:n.393-23016T>C |