Original source

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

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

Chromosome 17:41063252 (forward strand) | View in location tab

Co-located

with COSMIC COSM1252915 (C/T) ; HGMD-PUBLIC CM930262

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 6316, 2010_April_001_051_G6PC_232200_0003

This variation has 8 HGVS names - click the plus to show

17:g.41063252C>T
ENST00000585489.1:c.*275C>T
ENST00000592383.1:c.*275C>T
ENST00000253801.2:c.883C>T
ENSP00000253801.1:p.Arg295Cys
LRG_147:g.15438C>T
LRG_147t1.1:c.883C>T
LRG_147p1.1:p.Arg295Cys

Variation displays