Original source

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

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

Chromosome 9:126693527 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM042388, CM981221

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_046_LMX1B_602575_0011, 11288

This variation has 9 HGVS names - click the plus to show

9:g.126693527C>T
ENST00000373474.5:c.745C>T
ENSP00000362573.3:p.Arg249Ter
ENST00000526117.2:c.745C>T
ENSP00000436930.1:p.Arg249Ter
ENST00000561065.1:c.676C>T
ENSP00000453580.1:p.Arg226Ter
ENST00000355497.6:c.745C>T
ENSP00000347684.5:p.Arg249Ter

Variation displays