Original source

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

Alleles
C/G | Ancestral: C | Ambiguity code: S
Location

Chromosome 11:44114224 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM970452

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 15579

This variant has 15 HGVS names - click the plus to show

11:g.44114224C>G
ENST00000358681.8:c.666C>G
ENSP00000351509.4:p.Tyr222Ter
ENST00000533608.5:c.666C>G
ENSP00000431173.1:p.Tyr222Ter
ENST00000529186.1:n.364C>G
ENST00000395673.7:c.765C>G
ENSP00000379032.3:p.Tyr255Ter
ENST00000343631.3:c.666C>G
ENSP00000342656.3:p.Tyr222Ter
LRG_494:g.23676C>G
LRG_494t2:c.666C>G
LRG_494p2:p.Tyr222Ter
LRG_494t1:c.765C>G
LRG_494p1:p.Tyr255Ter

About this variant

This variant overlaps 7 transcripts and is associated with 2 phenotypes.

Variant displays