Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | 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

with COSMIC COSM149393 (G/A) ; HGMD-PUBLIC CM087622

Most severe consequence
Evidence status

This variation has 5 synonyms - click the plus to show

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

3:g.49684099G>A
ENST00000449682.2:c.2107C>T
ENSP00000414287.2:p.Arg703Cys
ENST00000479115.4:n.2162C>T
ENST00000488350.5:n.4029C>T
ENST00000493836.4:n.873C>T
ENST00000492329.4:n.1883C>T
ENST00000448220.4:c.515C>T
ENSP00000394756.1:p.Arg173Cys

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

About this variant

This variant overlaps 29 transcripts, has 2691 individual genotypes, is associated with 6 phenotypes and is mentioned in 43 citations.

Variation displays