Original source

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

Alleles
A/G|Ancestral: A|Ambiguity code: R|MAF: 0.05 (G)
Location

Chromosome 10:71730514 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM021540

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 11 HGVS names - Hide

10:g.71730514A>G
ENST00000398786.2:c.-6+7214T>C
ENST00000616684.4:c.3625A>G
ENSP00000482036.2:p.Thr1209Ala
ENST00000398809.8:c.3622A>G
ENSP00000381789.5:p.Thr1208Ala
ENST00000622827.4:c.3625A>G
ENSP00000483211.1:p.Thr1209Ala
ENST00000224721.10:c.3640A>G
ENSP00000224721.8:p.Thr1214Ala
ENST00000398792.3:n.317A>G

Genotyping chips

This variant has assays on 5 chips - Show

About this variant

This variant overlaps 6 transcripts, 1 regulatory feature, has 2507 sample genotypes, is associated with 5 phenotypes and is mentioned in 4 citations.

Variant displays