Original source

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

Alleles
C/T|Ancestral: C|Ambiguity code: Y|MAF: 0.16 (T)
Location

Chromosome 16:31325567 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM0911102

Most severe consequence
 
Missense variant
Evidence status

Synonyms

This variant has 5 synonyms - Show

HGVS names

This variant has 6 HGVS names - Hide

16:g.31325567C>T
ENST00000287497.12:c.2573C>T
ENSP00000287497.8:p.Ala858Val
ENST00000561838.1:n.389C>T
ENST00000544665.7:c.2576C>T
ENSP00000441691.2:p.Ala859Val

Genotyping chips

This variant has assays on 14 chips - Show

About this variant

This variant overlaps 7 transcripts, has 3987 sample genotypes and is mentioned in 6 citations.

Variant displays