Canonical Allele Identifier:
CA12847684
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.23953878 (MID)
Genomes Max Group AF
0.22741839 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.128182395C>T , CM000670.2:g.128182395C>T | GRCh38 |
| NC_000008.10:g.129194641C>T , CM000670.1:g.129194641C>T | GRCh37 |
| NC_000008.9:g.129263823C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_928641.1:n.861-4161C>T |