Original source

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

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

Chromosome 2:114004362 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM042762

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 4519, 2010_April_001_103_PAX8_167415_0006

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

2:g.114004362T>C
ENST00000263334.5:c.160A>G
ENSP00000263334.5:p.Ser54Gly
ENST00000348715.5:c.160A>G
ENSP00000314750.5:p.Ser54Gly
ENST00000436293.2:n.355-3982T>C
ENST00000556070.1:n.35+11215T>C
ENST00000445745.1:n.378-8605T>C
ENST00000429538.3:c.160A>G
ENSP00000395498.3:p.Ser54Gly
ENST00000422956.2:n.36-8605T>C
ENST00000263335.7:c.160A>G
ENSP00000263335.7:p.Ser54Gly
ENST00000467778.1:n.324A>G
ENST00000333145.5:n.133-8605T>C
ENST00000451179.1:n.164+8573T>C
ENST00000397647.3:c.160A>G
ENSP00000380768.3:p.Ser54Gly
ENST00000553869.2:n.154+8573T>C
ENST00000554830.1:c.26-4007A>G

Variation displays