Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
T/C | Ancestral: T | Ambiguity code: Y
Location

Chromosome 1:229432660 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM034494, CM992119 ; PhenCode ACTA1:c.350A>C (T/G), ACTA1:c.350A>G (T/C)

Most severe consequence
Evidence status

Clinical significance

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

1:g.229432660T>C
ENST00000366683.3:c.350A>G
ENSP00000355644.3:p.Asn117Ser
ENST00000366684.6:c.350A>G
ENSP00000355645.3:p.Asn117Ser

About this variant

This variant overlaps 2 transcripts and is associated with 2 phenotypes.

Variation displays