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 | MAF: 0.45 (C)
Location

Chromosome 3:114171968 (forward strand) | View in location tab

Co-located

with COSMIC COSM4157142 (C/T) ; HGMD-PUBLIC CM033372

Most severe consequence
Evidence status

Clinical significance

This variation has 7 synonyms - click the plus to show

This variation has 9 HGVS names - click the plus to show

3:g.114171968C>T
ENST00000467632.4:c.25G>A
ENSP00000420662.1:p.Gly9Ser
ENST00000295881.8:c.25G>A
ENSP00000295881.6:p.Gly9Ser
ENST00000383673.4:c.25G>A
ENSP00000373169.2:p.Gly9Ser
ENST00000460779.4:c.25G>A
ENSP00000419402.1:p.Gly9Ser

This variation has assays on 11 chips - click the plus to show

About this variant

This variant overlaps 4 transcripts, has 2597 individual genotypes, is associated with 3 phenotypes and is mentioned in 78 citations.

Variation displays