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 3:181712523 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM061214

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_206_SOX2_184429_0007, 5465

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

3:g.181712523C>T
ENST00000498731.2:n.564-2662C>T
ENST00000593549.2:n.290-2662C>T
ENST00000595287.1:n.286+12640C>T
ENST00000597828.2:n.638-2662C>T
ENST00000493521.2:n.782+12640C>T
ENST00000477928.1:n.391+12640C>T
ENST00000593330.1:n.44+12640C>T
ENST00000600778.1:n.285+12640C>T
ENST00000596250.2:n.289+12640C>T
ENST00000600386.2:n.290-2662C>T
ENST00000598474.1:n.289+12640C>T
ENST00000492337.2:n.739-2662C>T
ENST00000476964.2:n.482-27046C>T
ENST00000466034.2:n.389-2662C>T
ENST00000491282.2:n.577+12640C>T
ENST00000498226.2:n.287-78150C>T
ENST00000599082.1:n.50+12879C>T
ENST00000600801.2:n.290-2662C>T
ENST00000325404.2:c.163C>T
ENSP00000323588.1:p.Gln55Ter
ENST00000469278.2:n.473-27046C>T
ENST00000597651.2:n.289+12640C>T

Variation displays