Original source

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

Alleles
T/G | Ancestral: T | Ambiguity code: K
Location

Chromosome 2:114004403 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM013025

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_104_PAX8_167415_0007, 4520

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

2:g.114004403T>G
ENST00000263334.5:c.119A>C
ENSP00000263334.5:p.Gln40Pro
ENST00000348715.5:c.119A>C
ENSP00000314750.5:p.Gln40Pro
ENST00000556070.1:n.35+11256T>G
ENST00000445745.1:n.378-8564T>G
ENST00000436293.2:n.355-3941T>G
ENST00000429538.3:c.119A>C
ENSP00000395498.3:p.Gln40Pro
ENST00000263335.7:c.119A>C
ENSP00000263335.7:p.Gln40Pro
ENST00000422956.2:n.36-8564T>G
ENST00000467778.1:n.283A>C
ENST00000333145.5:n.133-8564T>G
ENST00000397647.3:c.119A>C
ENSP00000380768.3:p.Gln40Pro
ENST00000553869.2:n.154+8614T>G
ENST00000451179.1:n.165-8564T>G
ENST00000554830.1:c.26-4048A>C

Variation displays