Original source

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

Alleles
A/G|Ancestral: A|Ambiguity code: R|MAF: 0.31 (A)
Location

Chromosome 1:55075501 (forward strand)|View in location tab

Most severe consequence
 
Missense variant
Evidence status

Synonyms

This variant has 7 synonyms - Show

HGVS names

This variant has 3 HGVS names - Hide

1:g.55075501A>G
ENST00000294383.6:c.7403T>C
ENSP00000294383.5:p.Val2468Ala

Genotyping chips

This variant has assays on 10 chips - Show

About this variant

This variant overlaps 3 transcripts, has 4035 sample genotypes and is mentioned in 5 citations.

Variant displays