Original source

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

Alleles
C/A | Ancestral: C | Ambiguity code: M
Location

Chromosome 1:229567741 (forward strand) | View in location tab

Co-located

with COSMIC COSM1339913 (C/T) ; HGMD-PUBLIC CX095261, CM012325, CM034511, CM045914 ; PhenCode ACTA1:c.808G>A (C/T), ACTA1:c.808G>C (C/G), ACTA1:c.808G>T (C/A)

Most severe consequence
Clinical significance

This variation has 5 HGVS names - click the plus to show

1:g.229567741C>A
ENST00000366683.2:c.544G>T
ENSP00000355644.2:p.Gly182Cys
ENST00000366684.3:c.808G>T
ENSP00000355645.3:p.Gly270Cys

Variation displays