Original source

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

Alleles
T/A | Ancestral: T | Ambiguity code: W
Location

Chromosome 3:165504043 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM920126

Most severe consequence
Clinical significance

Synonyms

LSDB 5069

This variation has 11 HGVS names - click the plus to show

3:g.165504043T>A
ENST00000482958.1:c.*80A>T
ENST00000540653.1:c.-41A>T
ENST00000264381.3:c.1574A>T
ENSP00000264381.3:p.Glu525Val
ENST00000479451.1:c.164A>T
ENSP00000418325.1:p.Glu55Val
ENST00000488954.1:c.164A>T
ENSP00000418504.1:p.Glu55Val
ENST00000497011.1:c.1574A>T
ENSP00000419505.1:p.Glu525Val

Variation displays