gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09389149 (SAS)
Genomes Max Group AF
0.06521045 (SAS)
Exomes Max Group AF
0.09490762 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19589563C>T , CM000686.2:g.19589563C>T | GRCh38 |
| NC_000024.9:g.21751449C>T , CM000686.1:g.21751449C>T | GRCh37 |
| NC_000024.8:g.20210837C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686158.1:n.540C>T | ||
| ENST00000686905.1:n.1625C>T | ||
| ENST00000693214.1:n.1713C>T | ||
| ENST00000445715.6:n.442C>T | ||
| ENST00000407724.7:n.786C>T | ||
| ENST00000445715.5:n.442C>T | ||
| ENST00000447202.2:n.2477C>T | ||
| ENST00000447520.5:n.442C>T | ||
| ENST00000459719.6:n.1713C>T | ||
| ENST00000538014.2:n.1732C>T | ||
| ENST00000585549.5:n.85C>T | ||
| ENST00000587095.1:n.83C>T | ||
| ENST00000588613.5:n.151C>T | ||
| ENST00000589075.5:n.124C>T | ||
| NR_045128.1:n.466C>T | ||
| NR_045129.1:n.466C>T |