Original source

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

Alleles
C/A/T | Ancestral: C | Ambiguity code: H
Location

Chromosome 1:229568140 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM034500, CM992121, CM992122 ; PhenCode ACTA1:c.493G>A (C/T), ACTA1:c.493G>C (C/G), ACTA1:c.493G>T (C/A)

Most severe consequence
Clinical significance

Synonyms

Archive dbSNP rs121909532

This variation has 8 HGVS names - click the plus to show

Variant allele A
1:g.229568140C>A
ENST00000366683.2:c.353-208G>T
ENST00000366684.3:c.493G>T
ENSP00000355645.3:p.Val165Leu

Variant allele T
1:g.229568140C>T
ENST00000366683.2:c.353-208G>A
ENST00000366684.3:c.493G>A
ENSP00000355645.3:p.Val165Met

Variation displays