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 10:13288428 (forward strand)|View in location tab

Co-located variants

COSMIC COSM916259 ; HGMD-PUBLIC CM001297

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 11 HGVS names - Hide

10:g.13288428C>T
ENST00000396913.6:c.310G>A
ENSP00000380121.2:p.Gly104Ser
ENST00000453759.6:c.310G>A
ENSP00000412525.2:p.Gly104Ser
ENST00000396920.7:c.559G>A
ENSP00000380126.3:p.Gly187Ser
ENST00000263038.8:c.610G>A
ENSP00000263038.4:p.Gly204Ser
ENST00000479604.1:c.616G>A
ENSP00000420117.1:p.Gly206Ser

About this variant

This variant overlaps 6 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays