Original source

Variants (including SNPs and indels) imported from dbSNP (release 138) | View in dbSNP

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

Chromosome 1:229568343 (forward strand) | View in location tab

Co-located

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

Most severe consequence
Clinical significance

This variation has 4 HGVS names - click the plus to show

1:g.229568343G>C
ENST00000366683.2:c.352+62C>G
ENST00000366684.3:c.414C>G
ENSP00000355645.3:p.Ile138Met

Variation displays