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 2:114004352 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM010369

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 4518, 2010_April_001_102_PAX8_167415_0005

This variation has 20 HGVS names - click the plus to show

2:g.114004352C>T
ENST00000263334.5:c.170G>A
ENSP00000263334.5:p.Cys57Tyr
ENST00000348715.5:c.170G>A
ENSP00000314750.5:p.Cys57Tyr
ENST00000556070.1:n.35+11205C>T
ENST00000429538.3:c.170G>A
ENSP00000395498.3:p.Cys57Tyr
ENST00000436293.2:n.355-3992C>T
ENST00000445745.1:n.378-8615C>T
ENST00000422956.2:n.36-8615C>T
ENST00000263335.7:c.170G>A
ENSP00000263335.7:p.Cys57Tyr
ENST00000467778.1:n.334G>A
ENST00000333145.5:n.133-8615C>T
ENST00000553869.2:n.154+8563C>T
ENST00000397647.3:c.170G>A
ENSP00000380768.3:p.Cys57Tyr
ENST00000451179.1:n.164+8563C>T
ENST00000554830.1:c.26-3997G>A

Variation displays