gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.15718261 (SAS)
Genomes Max Group AF
0.15718261 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.123447985C>T , CM000672.2:g.123447985C>T | GRCh38 |
| NC_000010.10:g.125207501C>T , CM000672.1:g.125207501C>T | GRCh37 |
| NC_000010.9:g.125197491C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_946399.1:n.3016-1368C>T | ||
| XR_946400.1:n.2674-1368C>T | ||
| XR_946402.1:n.2904-1368C>T | ||
| XR_946403.1:n.3241-1368C>T | ||
| XR_946405.1:n.2685-1368C>T | ||
| XR_946408.1:n.2910-1368C>T | ||
| XR_946412.1:n.148-1368C>T | ||
| XR_946413.1:n.3016-1368C>T | ||
| XR_946417.1:n.147+18815C>T | ||
| XR_001747614.1:n.6032-1368C>T | ||
| XR_001747615.1:n.8798-1368C>T | ||
| XR_001747617.2:n.4602-1368C>T | ||
| XR_001747619.2:n.4601+18815C>T | ||
| XR_002957104.1:n.6363-1368C>T | ||
| XR_002957105.1:n.5694-1368C>T |