Canonical Allele Identifier:
CA12586286
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41048396 (NFE)
Genomes Max Group AF
0.41048396 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.41782319C>T , CM000669.2:g.41782319C>T | GRCh38 |
| NC_000007.13:g.41821917C>T , CM000669.1:g.41821917C>T | GRCh37 |
| NC_000007.12:g.41788442C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001745185.1:n.964+46605C>T | ||
| XR_001745186.1:n.954+46615C>T |