Original source

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

Alleles
C/G | Ancestral: C | Ambiguity code: S
Location

Chromosome 1:229568814 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM992116 ; PhenCode ACTA1:c.49G>C (C/G)

Most severe consequence
Clinical significance

Synonyms

LSDB 95

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

1:g.229568814C>G
ENST00000366683.2:c.49G>C
ENSP00000355644.2:p.Gly17Arg
ENST00000366684.3:c.49G>C
ENSP00000355645.3:p.Gly17Arg

Variation displays