Original source

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

Alleles
T/G | Ancestral: T | Ambiguity code: K
Location

Chromosome 3:181712498 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM060484

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 5467, 2010_April_001_208_SOX2_184429_0009

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

3:g.181712498T>G
ENST00000498731.2:n.564-2687T>G
ENST00000595287.1:n.286+12615T>G
ENST00000593549.2:n.290-2687T>G
ENST00000493521.2:n.782+12615T>G
ENST00000597828.2:n.638-2687T>G
ENST00000477928.1:n.391+12615T>G
ENST00000593330.1:n.44+12615T>G
ENST00000600778.1:n.285+12615T>G
ENST00000596250.2:n.289+12615T>G
ENST00000600386.2:n.290-2687T>G
ENST00000598474.1:n.289+12615T>G
ENST00000492337.2:n.739-2687T>G
ENST00000476964.2:n.482-27071T>G
ENST00000466034.2:n.389-2687T>G
ENST00000491282.2:n.577+12615T>G
ENST00000498226.2:n.287-78175T>G
ENST00000599082.1:n.50+12854T>G
ENST00000600801.2:n.290-2687T>G
ENST00000469278.2:n.473-27071T>G
ENST00000325404.2:c.138T>G
ENSP00000323588.1:p.Asn46Lys
ENST00000597651.2:n.289+12615T>G

Variation displays