Original source

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

Alleles
T/G | Ancestral: T | Ambiguity code: K
Location

Chromosome 1:229567373 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM042926 ; PhenCode ACTA1:c.1007A>C (T/G)

Most severe consequence
Clinical significance

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

1:g.229567373T>G
ENST00000366683.2:c.743A>C
ENSP00000355644.2:p.Glu248Ala
ENST00000366684.3:c.1007A>C
ENSP00000355645.3:p.Glu336Ala

Variation displays