Original source

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

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

Chromosome 9:129453141 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM981210, CM992917

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 11281, 2010_April_001_042_LMX1B_602575_0004

This variation has 11 HGVS names - click the plus to show

9:g.129453141G>T
ENST00000373474.4:c.353G>T
ENSP00000362573.3:p.Cys118Phe
ENST00000425646.2:c.284G>T
ENSP00000390923.2:p.Cys95Phe
ENST00000526117.1:c.353G>T
ENSP00000436930.1:p.Cys118Phe
ENST00000561065.1:c.284G>T
ENSP00000453580.1:p.Cys95Phe
ENST00000355497.5:c.353G>T
ENSP00000347684.5:p.Cys118Phe

Variation displays