gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.08757846 (NFE)
Genomes Max Group AF
0.08757846 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.104051280T>G , CM000664.2:g.104051280T>G | GRCh38 |
| NC_000002.11:g.104667738T>G , CM000664.1:g.104667738T>G | GRCh37 |
| NC_000002.10:g.104034170T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001739621.1:n.179-2224T>G | ||
| XR_001739622.1:n.72-2224T>G | ||
| XR_001739623.1:n.179-2224T>G |