gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.56286307 (NFE)
Genomes Max Group AF
0.56286307 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.105052348A>T , CM000673.2:g.105052348A>T | GRCh38 |
| NC_000011.9:g.104923075A>T , CM000673.1:g.104923075A>T | GRCh37 |
| NC_000011.8:g.104428285A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525374.1:c.8-7690T>A | ENSP00000433700.1:n.8-7690T>A | |
| XR_001748352.1:n.164+4185A>T |