gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.6074164 (NFE)
Genomes Max Group AF
0.6074164 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.50094148C>T , CM000663.2:g.50094148C>T | GRCh38 |
| NC_000001.10:g.50559820C>T , CM000663.1:g.50559820C>T | GRCh37 |
| NC_000001.9:g.50332407C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448907.7:c.18+45966C>T | ENSP00000399939.2:n.18+45966C>T | |
| ENST00000463650.2:c.-13+46424C>T | ENSP00000498680.1:n.-13+46424C>T | |
| ENST00000651693.1:c.-125-3762C>T | ENSP00000498319.1:n.-125-3762C>T | |
| ENST00000652252.1:n.237+26664C>T | ||
| ENST00000448907.6:c.18+45966C>T | ENSP00000399939.2:n.18+45966C>T | |
| NM_001144777.2:c.18+45966C>T | NP_001138249.1:n.18+45966C>T | |
| XM_011540892.1:c.18+45966C>T | XP_011539194.1:n.18+45966C>T | |
| NM_001324208.1:c.18+45966C>T | NP_001311137.1:n.18+45966C>T | |
| XM_017000542.1:c.18+45966C>T | XP_016856031.1:n.18+45966C>T | |
| NM_001144777.3:c.18+45966C>T | NP_001138249.1:n.18+45966C>T | |
| NM_001324208.2:c.18+45966C>T | NP_001311137.1:n.18+45966C>T |