gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.69220203 (NFE)
Genomes Max Group AF
0.69220203 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122970360T>A , CM000672.2:g.122970360T>A | GRCh38 |
| NC_000010.10:g.124729876T>A , CM000672.1:g.124729876T>A | GRCh37 |
| NC_000010.9:g.124719866T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465232.5:n.189-12912T>A | ||
| XR_945592.1:n.335-12373T>A |