Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | View in dbSNP

Alleles
C/T | Ancestral: C | Ambiguity code: Y
Location

Chromosome 3:181712889 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM030718

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_201_SOX2_184429_0001, 5459

This variation has 23 HGVS names - click the plus to show

3:g.181712889C>T
ENST00000498731.2:n.564-2296C>T
ENST00000593549.2:n.290-2296C>T
ENST00000595287.1:n.286+13006C>T
ENST00000493521.2:n.782+13006C>T
ENST00000597828.2:n.638-2296C>T
ENST00000593330.1:n.44+13006C>T
ENST00000477928.1:n.391+13006C>T
ENST00000600778.1:n.285+13006C>T
ENST00000596250.2:n.289+13006C>T
ENST00000600386.2:n.290-2296C>T
ENST00000598474.1:n.289+13006C>T
ENST00000492337.2:n.739-2296C>T
ENST00000476964.2:n.482-26680C>T
ENST00000466034.2:n.389-2296C>T
ENST00000491282.2:n.577+13006C>T
ENST00000498226.2:n.287-77784C>T
ENST00000599082.1:n.50+13245C>T
ENST00000600801.2:n.290-2296C>T
ENST00000325404.2:c.529C>T
ENSP00000323588.1:p.Gln177Ter
ENST00000469278.2:n.473-26680C>T
ENST00000597651.2:n.289+13006C>T

Variation displays