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 2:114004430 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM981477

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_100_PAX8_167415_0003, 4516

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

2:g.114004430C>T
ENST00000263334.5:c.92G>A
ENSP00000263334.5:p.Arg31His
ENST00000348715.5:c.92G>A
ENSP00000314750.5:p.Arg31His
ENST00000436293.2:n.355-3914C>T
ENST00000445745.1:n.378-8537C>T
ENST00000556070.1:n.35+11283C>T
ENST00000429538.3:c.92G>A
ENSP00000395498.3:p.Arg31His
ENST00000263335.7:c.92G>A
ENSP00000263335.7:p.Arg31His
ENST00000422956.2:n.36-8537C>T
ENST00000467778.1:n.256G>A
ENST00000333145.5:n.133-8537C>T
ENST00000451179.1:n.165-8537C>T
ENST00000553869.2:n.154+8641C>T
ENST00000397647.3:c.92G>A
ENSP00000380768.3:p.Arg31His
ENST00000554830.1:c.26-4075G>A

Variation displays