Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | View in dbSNP

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

Chromosome 1:229431558 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM012326 ; PhenCode ACTA1:c.1075A>C (T/G)

Most severe consequence
Clinical significance

Synonyms

LSDB 98

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

1:g.229431558T>G
ENST00000366683.3:c.706A>C
ENSP00000355644.3:p.Ile236Leu
ENST00000366684.4:c.1075A>C
ENSP00000355645.3:p.Ile359Leu

Variation displays