Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | View in dbSNP

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

Chromosome 2:113246775 (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 22 HGVS names - click the plus to show

2:g.113246775C>T
ENST00000263334.6:c.170G>A
ENSP00000263334.6:p.Cys57Tyr
ENST00000436293.3:n.355-3992C>T
ENST00000429538.4:c.170G>A
ENSP00000395498.3:p.Cys57Tyr
ENST00000556070.2:n.35+11205C>T
ENST00000263335.8:c.170G>A
ENSP00000263335.7:p.Cys57Tyr
ENST00000397647.4:c.170G>A
ENSP00000380768.3:p.Cys57Tyr
ENST00000451179.2:n.164+8563C>T
ENST00000616073.1:n.142-8615C>T
ENST00000348715.6:c.170G>A
ENSP00000314750.5:p.Cys57Tyr
ENST00000445745.2:n.378-8615C>T
ENST00000422956.3:n.36-8615C>T
ENST00000617509.1:n.152-8615C>T
ENST00000467778.2:n.334G>A
ENST00000333145.6:n.133-8615C>T
ENST00000553869.3:n.154+8563C>T
ENST00000554830.1:c.26-3997G>A

Variation displays