Original source

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

Alleles
A/G | Ancestral: A | Ambiguity code: R
Location

Chromosome 1:229567881 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM043253 ; PhenCode ACTA1:c.668T>C (A/G)

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 104, NM_001100.3:c.668T>C

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

1:g.229567881A>G
ENST00000366683.2:c.404T>C
ENSP00000355644.2:p.Leu135Pro
ENST00000366684.3:c.668T>C
ENSP00000355645.3:p.Leu223Pro

Variation displays