Canonical Allele Identifier:
CA12504994
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.81898324 (AFR)
Genomes Max Group AF
0.81898324 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.41855244C>T , CM000669.2:g.41855244C>T | GRCh38 |
| NC_000007.13:g.41894842C>T , CM000669.1:g.41894842C>T | GRCh37 |
| NC_000007.12:g.41861367C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001745185.1:n.965-16764C>T | ||
| XR_001745186.1:n.955-16764C>T |