Original source

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

Alleles
T/A | Ancestral: T | Ambiguity code: W
Location

Chromosome 1:229567767 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM992126 ; PhenCode ACTA1:c.782A>T (T/A)

Most severe consequence
Clinical significance

Synonyms

LSDB 97

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

1:g.229567767T>A
ENST00000366683.2:c.518A>T
ENSP00000355644.2:p.Glu173Val
ENST00000366684.3:c.782A>T
ENSP00000355645.3:p.Glu261Val

Variation displays