Canonical Allele Identifier:
CA50709358
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.10639056 (MID)
Genomes Max Group AF
0.07840596 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.76532449C>T , CM000664.2:g.76532449C>T | GRCh38 |
| NC_000002.11:g.76759575C>T , CM000664.1:g.76759575C>T | GRCh37 |
| NC_000002.10:g.76613083C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_940262.1:n.182+25387C>T | ||
| XR_940262.2:n.171+25387C>T |