Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 3:181430719 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM064286

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_209_SOX2_184429_0013, 5471

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

3:g.181430719G>A
ENST00000498731.1:n.564-2254G>A
ENST00000595287.1:n.286+13048G>A
ENST00000431565.2:c.571G>A
ENSP00000439111.1:p.Ala191Thr
ENST00000593549.1:n.290-2254G>A
ENST00000597828.1:n.638-2254G>A
ENST00000493521.1:n.782+13048G>A
ENST00000593330.1:n.44+13048G>A
ENST00000477928.1:n.391+13048G>A
ENST00000600778.1:n.285+13048G>A
ENST00000596250.1:n.289+13048G>A
ENST00000600386.1:n.290-2254G>A
ENST00000598474.1:n.289+13048G>A
ENST00000492337.1:n.739-2254G>A
ENST00000476964.1:n.482-26638G>A
ENST00000466034.1:n.389-2254G>A
ENST00000491282.1:n.577+13048G>A
ENST00000498226.1:n.287-77742G>A
ENST00000599082.1:n.50+13287G>A
ENST00000600801.1:n.290-2254G>A
ENST00000325404.1:c.571G>A
ENSP00000323588.1:p.Ala191Thr
ENST00000469278.1:n.473-26638G>A
ENST00000597651.1:n.289+13048G>A

Variation displays