Canonical Allele Identifier:
CA12717752
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.20554147 (SAS)
Genomes Max Group AF
0.20554147 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.20734998T>C , CM000670.2:g.20734998T>C | GRCh38 |
| NC_000008.10:g.20592509T>C , CM000670.1:g.20592509T>C | GRCh37 |
| NC_000008.9:g.20636789T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_949569.3:n.72-55448T>C |