Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

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

Chromosome 1:229431994 (forward strand) | View in location tab

Co-located

with COSMIC COSM1339913 (C/T) ; HGMD-PUBLIC CM012325, CM045914, CM034511, CX095261 ; 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 4 HGVS names - click the plus to show

1:g.229431994C>A
ENST00000366683.3:c.480-132G>T
ENST00000366684.5:c.808G>T
ENSP00000355645.3:p.Gly270Cys

Variation displays