COSMIC:
COSM4146366 (not active)
COSM4146367 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.8404592 (EAS)
Genomes Max Group AF
0.82306565 (EAS)
Exomes Max Group AF
0.84047732 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.7992932C>T , CM000673.2:g.7992932C>T | GRCh38 |
| NC_000011.9:g.8014479C>T , CM000673.1:g.8014479C>T | GRCh37 |
| NC_000011.8:g.7971055C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528653.2:n.566C>T | ||
| ENST00000528763.2:n.316C>T | ||
| ENST00000530219.2:n.361C>T | ||
| ENST00000531329.6:c.*5C>T | ENSP00000432489.2:n.*5C>T | |
| ENST00000531572.2:c.561C>T | ENSP00000434286.2:p.His187= | |
| ENST00000532882.2:n.1930C>T | ||
| ENST00000640290.2:c.*162C>T | ENSP00000491198.2:n.*162C>T | |
| ENST00000651655.1:c.561C>T MANE Select | ENSP00000499218.1:p.His187= | |
| ENST00000677121.1:c.561C>T | ENSP00000503130.1:p.His187= | |
| ENST00000677179.1:n.4853C>T | ||
| ENST00000677795.1:n.2132C>T | ||
| ENST00000677866.1:n.205C>T | ||
| ENST00000678132.1:c.*162C>T | ENSP00000504073.1:n.*162C>T | |
| ENST00000678993.1:c.*115C>T | ENSP00000504201.1:n.*115C>T | |
| ENST00000309828.4:c.561C>T | ENSP00000310040.4:p.His187= | |
| ENST00000528653.1:n.678C>T | ||
| ENST00000530219.1:n.738C>T | ||
| ENST00000531329.5:c.*115C>T | ENSP00000432489.1:n.*115C>T | |
| ENST00000532882.1:n.388C>T | ||
| ENST00000533626.5:c.561C>T | ENSP00000431800.1:p.His187= | |
| NM_003754.2:c.561C>T | NP_003745.1:p.His187= | |
| NM_003754.3:c.561C>T MANE Select | NP_003745.1:p.His187= |