Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R|MAF: 0.09 (A)
Location

Chromosome 16:31265490 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM080418

Most severe consequence
 
Missense variant
Evidence status

Synonyms

This variant has 2 synonyms - Show

HGVS names

This variant has 5 HGVS names - Hide

16:g.31265490G>A
ENST00000287497.12:c.230G>A
ENSP00000287497.8:p.Arg77His
ENST00000544665.7:c.230G>A
ENSP00000441691.2:p.Arg77His

Genotyping chips

This variant has assays on 7 chips - Show

About this variant

This variant overlaps 2 transcripts, 2 regulatory features, has 2541 sample genotypes and is mentioned in 48 citations.

Variant displays