Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y|MAF: 0.02 (T)
Location

Chromosome 9:133657152 (forward strand)|View in location tab

Co-located variants

COSMIC COSM5021649 ; HGMD-PUBLIC CM054656

Most severe consequence
 
Missense variant
Evidence status

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 4 HGVS names - Hide

9:g.133657152C>T
ENST00000393056.6:c.1645C>T
ENSP00000376776.2:p.Arg549Cys
ENST00000425189.1:n.162G>A

Genotyping chips

This variant has assays on 8 chips - Show

About this variant

This variant overlaps 2 transcripts, has 3676 sample genotypes and is mentioned in 8 citations.

Variant displays