Canonical Allele Identifier:
CA13602980
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.54484194 (SAS)
Genomes Max Group AF
0.54484194 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115398717A>G , CM000674.2:g.115398717A>G | GRCh38 |
| NC_000012.11:g.115836522A>G , CM000674.1:g.115836522A>G | GRCh37 |
| NC_000012.10:g.114320905A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_945389.1:n.697+8378T>C | ||
| XR_945389.2:n.701+8378T>C |