Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
C/T|Ancestral: C|Ambiguity code: Y|MAF: 0.49 (C)
Location

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

Co-located variant

HGMD-PUBLIC CM033372

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 7 synonyms - Show

HGVS names

This variant has 9 HGVS names - Hide

3:g.114171968C>T
ENST00000467632.5:c.25G>A
ENSP00000420662.1:p.Gly9Ser
ENST00000295881.9:c.25G>A
ENSP00000295881.6:p.Gly9Ser
ENST00000383673.4:c.25G>A
ENSP00000373169.2:p.Gly9Ser
ENST00000460779.5:c.25G>A
ENSP00000419402.1:p.Gly9Ser

Genotyping chips

This variant has assays on 11 chips - Show

About this variant

This variant overlaps 4 transcripts, has 3994 sample genotypes, is associated with 3 phenotypes and is mentioned in 81 citations.

Variant displays