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 1:55509689 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM031324

Most severe consequence
Clinical significance

This variation has 2 synonyms - click the plus to show

This variation has 9 HGVS names - click the plus to show

1:g.55509689T>A
ENST00000543384.1:c.-78+3613T>A
ENST00000452118.2:c.381T>A
ENSP00000401598.2:p.Ser127Arg
ENST00000302118.5:c.381T>A
ENSP00000303208.5:p.Ser127Arg
LRG_275:g.9470T>A
LRG_275t1.1:c.381T>A
LRG_275p1.1:p.Ser127Arg

Variation displays