Original source

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

Alleles
T/G|Ancestral: T|Ambiguity code: K
Location

Chromosome 1:229431626 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM042926 ; PhenCode ACTA1:c.1007A>C (T/G)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

HGVS names

This variant has 8 HGVS names - Hide

1:g.229431626T>G
ENST00000366683.3:c.638A>C
ENSP00000355644.3:p.Glu213Ala
ENST00000366684.7:c.1007A>C
ENSP00000355645.3:p.Glu336Ala
LRG_429:g.7471A>C
LRG_429t1:c.1007A>C
LRG_429p1:p.Glu336Ala

About this variant

This variant overlaps 3 transcripts and is associated with 2 phenotypes.

Variant displays