gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.85786205 (EAS)
Genomes Max Group AF
0.85786205 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46164194C>T , CM000665.2:g.46164194C>T | GRCh38 |
| NC_000003.11:g.46205686C>T , CM000665.1:g.46205686C>T | GRCh37 |
| NC_000003.10:g.46180690C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682778.1:n.647+332C>T | ||
| ENST00000684109.1:n.692-24738C>T | ||
| ENST00000357422.2:c.-285+332C>T | ENSP00000350003.2:n.-285+332C>T | |
| XR_940804.1:n.688-24738C>T | ||
| XR_940805.1:n.346+332C>T | ||
| XR_940806.1:n.202-24738C>T | ||
| XR_940804.2:n.692-24738C>T | ||
| XR_940805.2:n.374+332C>T |