Original source

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

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

Chromosome 1:229432393 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM992122, CM992121, CM034500 ; 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.229432393C>A
ENST00000366683.3:c.479+14G>T
ENST00000366684.4:c.493G>T
ENSP00000355645.3:p.Val165Leu

Variant allele T
1:g.229432393C>T
ENST00000366683.3:c.479+14G>A
ENST00000366684.4:c.493G>A
ENSP00000355645.3:p.Val165Met

Variation displays