Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
C/T|Ancestral: C|Ambiguity code: Y
Location

Chromosome 11:46726563 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM950382

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 4980

HGVS names

This variant has 10 HGVS names - Hide

11:g.46726563C>T
ENST00000530231.5:c.940C>T
ENSP00000433907.1:p.Arg314Cys
ENST00000311907.9:c.940C>T
ENSP00000308541.5:p.Arg314Cys
ENST00000442468.1:c.910C>T
ENSP00000387413.1:p.Arg304Cys
LRG_551:g.12371C>T
LRG_551t1:c.940C>T
LRG_551p1:p.Arg314Cys

About this variant

This variant overlaps 5 transcripts and is associated with 2 phenotypes.

Variant displays