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 2:99012480 (forward strand) | View in location tab

Co-located

with COSMIC COSM1410188 (C/T) ; HGMD-PUBLIC CM980376

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 8877, 2010_April_001_017_CNGA3_600053_0002

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

2:g.99012480C>T
ENST00000409937.1:c.859C>T
ENSP00000386761.1:p.Arg287Trp
ENST00000436404.2:c.793C>T
ENSP00000410070.2:p.Arg265Trp
ENST00000393504.1:c.847C>T
ENSP00000377140.1:p.Arg283Trp
ENST00000272602.2:c.847C>T
ENSP00000272602.2:p.Arg283Trp

Variation displays