Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R|MAF: 0.04 (A)
Location

Chromosome 6:111591867 (forward strand)|View in location tab

Most severe consequence
 
Missense variant
Evidence status

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 12 HGVS names - Hide

6:g.111591867G>A
ENST00000392556.8:c.247C>T
ENSP00000376339.5:p.Arg83Trp
ENST00000532353.1:n.112-5971G>A
ENST00000368761.9:c.220C>T
ENSP00000357750.5:p.Arg74Trp
ENST00000359831.8:c.220C>T
ENSP00000352889.4:p.Arg74Trp
ENST00000528599.1:n.415C>T
ENST00000340026.10:c.247C>T
ENSP00000345984.6:p.Arg83Trp
ENST00000532708.5:n.446C>T

Genotyping chips

This variant has assays on 8 chips - Show

About this variant

This variant overlaps 9 transcripts, 1 regulatory feature, has 3871 sample genotypes and is mentioned in 9 citations.

Variant displays