Original source

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

Alleles
G/A|Ancestral: A|Ambiguity code: R|MAF: 0.20 (A)
Location

Chromosome 14:20472447 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM073244

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 11 synonyms - Show

HGVS names

This variant has 14 HGVS names - Hide

14:g.20472447G>A
ENST00000557229.5:n.270G>A
ENST00000553591.1:c.268G>A
ENSP00000452421.1:p.Gly90Ser
ENST00000556293.5:n.270G>A
ENST00000554065.1:c.-87G>A
ENST00000553418.5:c.151G>A
ENSP00000450663.1:p.Gly51Ser
ENST00000361505.9:c.151G>A
ENSP00000354532.5:p.Gly51Ser
ENST00000554056.5:n.262G>A
LRG_91:g.8065G>A
LRG_91t1:c.151G>A
LRG_91p1:p.Gly51Ser

Genotyping chips

This variant has assays on 9 chips - Show

About this variant

This variant overlaps 10 transcripts, has 3848 sample genotypes, is associated with 4 phenotypes and is mentioned in 2 citations.

Variant displays