Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y|MAF: 0.35 (T)
Location

Chromosome 17:80205094 (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 9 HGVS names - Hide

17:g.80205094C>T
ENST00000576824.5:n.289G>A
ENST00000573346.5:n.144+239G>A
ENST00000575500.5:c.*918C>T
ENST00000573882.5:c.2458C>T
ENSP00000458715.1:p.Arg820Trp
ENST00000572730.1:n.617+239G>A
ENST00000344227.6:c.2458C>T
ENSP00000344549.2:p.Arg820Trp

Genotyping chips

This variant has assays on 12 chips - Show

About this variant

This variant overlaps 16 transcripts, has 3687 sample genotypes and is mentioned in 6 citations.

Variant displays