Original source

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

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

Chromosome 3:181430611 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM053424

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 5463, 2010_April_001_205_SOX2_184429_0005

This variation has 25 HGVS names - click the plus to show

3:g.181430611C>T
ENST00000498731.1:n.564-2362C>T
ENST00000431565.2:c.463C>T
ENSP00000439111.1:p.Gln155Ter
ENST00000593549.1:n.290-2362C>T
ENST00000595287.1:n.286+12940C>T
ENST00000597828.1:n.638-2362C>T
ENST00000493521.1:n.782+12940C>T
ENST00000593330.1:n.44+12940C>T
ENST00000477928.1:n.391+12940C>T
ENST00000600778.1:n.285+12940C>T
ENST00000596250.1:n.289+12940C>T
ENST00000600386.1:n.290-2362C>T
ENST00000598474.1:n.289+12940C>T
ENST00000476964.1:n.482-26746C>T
ENST00000492337.1:n.739-2362C>T
ENST00000466034.1:n.389-2362C>T
ENST00000491282.1:n.577+12940C>T
ENST00000498226.1:n.287-77850C>T
ENST00000599082.1:n.50+13179C>T
ENST00000600801.1:n.290-2362C>T
ENST00000325404.1:c.463C>T
ENSP00000323588.1:p.Gln155Ter
ENST00000469278.1:n.473-26746C>T
ENST00000597651.1:n.289+12940C>T

Variation displays