Original source

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

Alleles
T/A|Ancestral: T|Ambiguity code: W|MAF: 0.48 (A)
Location

Chromosome 9:115046506 (forward strand)|View in location tab

Co-located variants

COSMIC COSM3763573 ; HGMD-PUBLIC CM053428

Most severe consequence
 
Missense variant
Evidence status

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 16 HGVS names - Hide

9:g.115046506T>A
ENST00000473855.1:n.347A>T
ENST00000542877.5:c.3940A>T
ENSP00000442242.1:p.Ile1314Leu
ENST00000544972.1:c.716A>T
ENSP00000445380.1:p.Ile240Leu
ENST00000537320.5:c.3215-4165A>T
ENST00000498724.5:n.40-4165A>T
ENST00000341037.8:c.4483A>T
ENSP00000339553.4:p.Ile1495Leu
ENST00000350763.8:c.5029A>T
ENSP00000265131.4:p.Ile1677Leu
ENST00000476680.1:n.253-4165A>T
ENST00000535648.5:c.3940A>T
ENSP00000438152.2:p.Ile1314Leu
ENST00000423613.6:c.4307-4165A>T

Genotyping chips

This variant has assays on 7 chips - Show

About this variant

This variant overlaps 12 transcripts, has 3159 sample genotypes and is mentioned in 5 citations.

Variant displays