Original source

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

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

Chromosome 2:113246760 (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 22 HGVS names - click the plus to show

2:g.113246760A>C
ENST00000263334.6:c.185T>G
ENSP00000263334.6:p.Leu62Arg
ENST00000556070.2:n.35+11190A>C
ENST00000436293.3:n.355-4007A>C
ENST00000429538.4:c.185T>G
ENSP00000395498.3:p.Leu62Arg
ENST00000263335.8:c.185T>G
ENSP00000263335.7:p.Leu62Arg
ENST00000451179.2:n.164+8548A>C
ENST00000397647.4:c.185T>G
ENSP00000380768.3:p.Leu62Arg
ENST00000616073.1:n.142-8630A>C
ENST00000348715.6:c.185T>G
ENSP00000314750.5:p.Leu62Arg
ENST00000445745.2:n.378-8630A>C
ENST00000422956.3:n.36-8630A>C
ENST00000617509.1:n.152-8630A>C
ENST00000467778.2:n.349T>G
ENST00000333145.6:n.133-8630A>C
ENST00000553869.3:n.154+8548A>C
ENST00000554830.1:c.26-3982T>G

Variation displays