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 9:126693273 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM981215

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 11284, 2010_April_001_044_LMX1B_602575_0007

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

9:g.126693273C>T
ENST00000526117.3:c.691C>T
ENSP00000436930.1:p.Arg231Ter
ENST00000373474.6:c.691C>T
ENSP00000362573.3:p.Arg231Ter
ENST00000561065.1:c.622C>T
ENSP00000453580.1:p.Arg208Ter
ENST00000355497.7:c.691C>T
ENSP00000347684.5:p.Arg231Ter

Variation displays