Original source

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

Alleles
G/C|Ancestral: G|Ambiguity code: S
Location

Chromosome 1:229432596 (forward strand)|View in location tab

Co-located variants

COSMIC COSM679189, COSM533315 ; HGMD-PUBLIC CM012323 ; PhenCode ACTA1:c.414C>G (G/C)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

HGVS names

This variant has 8 HGVS names - Hide

1:g.229432596G>C
ENST00000366683.3:c.414C>G
ENSP00000355644.3:p.Ile138Met
ENST00000366684.7:c.414C>G
ENSP00000355645.3:p.Ile138Met
LRG_429:g.6501C>G
LRG_429t1:c.414C>G
LRG_429p1:p.Ile138Met

About this variant

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

Variant displays