Original source

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

Alleles
T/C|Ancestral: C|Ambiguity code: Y|MAF: 0.15 (T)
Location

Chromosome 12:111446804 (forward strand)|View in location tab

Co-located variants

COSMIC COSM4985153 ; HGMD-PUBLIC CM084630

Most severe consequence
 
Missense variant
Evidence status

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 10 HGVS names - Hide

12:g.111446804T>C
ENST00000341259.6:c.784T>C
ENSP00000345492.2:p.Trp262Arg
ENST00000538307.1:c.178T>C
ENSP00000440597.1:p.Trp60Arg
LRG_621:g.45857T>C
LRG_621t1:c.784T>C
LRG_621p1:p.Trp262Arg
LRG_621t2:c.178T>C
LRG_621p2:p.Trp60Arg

Genotyping chips

This variant has assays on 13 chips - Show

About this variant

This variant overlaps 5 transcripts, has 3562 sample genotypes, is associated with 17 phenotypes and is mentioned in 124 citations.

Variant displays