Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

Chromosome 1:229432723 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM992118 ; PhenCode ACTA1:c.287T>C (A/G)

Most severe consequence
Evidence status

Clinical significance

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

1:g.229432723A>G
ENST00000366683.3:c.287T>C
ENSP00000355644.3:p.Leu96Pro
ENST00000366684.6:c.287T>C
ENSP00000355645.3:p.Leu96Pro

About this variant

This variant overlaps 2 transcripts and is associated with 2 phenotypes.

Variation displays