Original source

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

Alleles
A/C | Ancestral: A | Ambiguity code: M
Location

Chromosome 2:114004337 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM981478

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 4517, 2010_April_001_101_PAX8_167415_0004

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

2:g.114004337A>C
ENST00000263334.5:c.185T>G
ENSP00000263334.5:p.Leu62Arg
ENST00000556070.1:n.35+11190A>C
ENST00000436293.2:n.355-4007A>C
ENST00000429538.3:c.185T>G
ENSP00000395498.3:p.Leu62Arg
ENST00000263335.7:c.185T>G
ENSP00000263335.7:p.Leu62Arg
ENST00000397647.3:c.185T>G
ENSP00000380768.3:p.Leu62Arg
ENST00000451179.1:n.164+8548A>C
ENST00000348715.5:c.185T>G
ENSP00000314750.5:p.Leu62Arg
ENST00000445745.1:n.378-8630A>C
ENST00000422956.2:n.36-8630A>C
ENST00000467778.1:n.349T>G
ENST00000333145.5:n.133-8630A>C
ENST00000553869.2:n.154+8548A>C
ENST00000554830.1:c.26-3982T>G

Variation displays