Canonical Allele Identifier:
CA12763114
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.77828115 (SAS)
Genomes Max Group AF
0.77828115 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.56401347A>C , CM000670.2:g.56401347A>C | GRCh38 |
| NC_000008.10:g.57313906A>C , CM000670.1:g.57313906A>C | GRCh37 |
| NC_000008.9:g.57476460A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_928910.1:n.521-3605T>G | ||
| XR_928910.2:n.521-3605T>G |