Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | 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 CM992119, CM034494 ; PhenCode ACTA1:c.350A>C (T/G), ACTA1:c.350A>G (T/C)

Most severe consequence
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
ENST00000366684.4:c.350A>G
ENSP00000355645.3:p.Asn117Ser

Variation displays