Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R|MAF: 0.19 (A)
Location

Chromosome 3:49684099 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM087622

Most severe consequence
 
Missense variant
Evidence status

Synonyms

This variant has 5 synonyms - Show

HGVS names

This variant has 9 HGVS names - Hide

3:g.49684099G>A
ENST00000449682.2:c.2107C>T
ENSP00000414287.2:p.Arg703Cys
ENST00000479115.5:n.2162C>T
ENST00000488350.6:n.4029C>T
ENST00000493836.5:n.873C>T
ENST00000492329.5:n.1883C>T
ENST00000448220.5:c.515C>T
ENSP00000394756.1:p.Arg173Cys

Genotyping chips

This variant has assays on 11 chips - Show

About this variant

This variant overlaps 29 transcripts, has 3725 sample genotypes, is associated with 7 phenotypes and is mentioned in 44 citations.

Variant displays