gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.31578999 (SAS)
Genomes Max Group AF
0.31578999 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.81937658A>C , CM000677.2:g.81937658A>C | GRCh38 |
| NC_000015.9:g.82229999A>C , CM000677.1:g.82229999A>C | GRCh37 |
| NC_000015.8:g.80017054A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_932527.1:n.399-11633T>G | ||
| XR_932528.1:n.399-7533T>G | ||
| XR_001751639.1:n.402-11633T>G | ||
| XR_001751640.1:n.402-11633T>G | ||
| XR_001751641.1:n.116-7533T>G | ||
| XR_001751642.1:n.116-11633T>G | ||
| XR_932527.2:n.402-11633T>G | ||
| XR_932528.2:n.402-7533T>G |