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 2:99012939 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM014547

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 8885, 2010_April_001_024_CNGA3_600053_0010

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

2:g.99012939C>T
ENST00000409937.1:c.1318C>T
ENSP00000386761.1:p.Arg440Trp
ENST00000393504.1:c.1306C>T
ENSP00000377140.1:p.Arg436Trp
ENST00000436404.2:c.1252C>T
ENSP00000410070.2:p.Arg418Trp
ENST00000272602.2:c.1306C>T
ENSP00000272602.2:p.Arg436Trp

Variation displays