gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.46800941 (SAS)
Genomes Max Group AF
0.46800941 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.108269025C>T , CM000675.2:g.108269025C>T | GRCh38 |
| NC_000013.10:g.108921373C>T , CM000675.1:g.108921373C>T | GRCh37 |
| NC_000013.9:g.107719374C>T | NCBI36 |
| NG_029524.1:g.4397C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486502.1:n.78-1075C>T | ||
| XR_001749468.1:n.786C>T |