Original source

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

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

Chromosome 9:126690862 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM992917, CM981210

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 11281, 2010_April_001_042_LMX1B_602575_0004

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

9:g.126690862G>T
ENST00000526117.3:c.353G>T
ENSP00000436930.1:p.Cys118Phe
ENST00000373474.6:c.353G>T
ENSP00000362573.3:p.Cys118Phe
ENST00000561065.1:c.284G>T
ENSP00000453580.1:p.Cys95Phe
ENST00000355497.7:c.353G>T
ENSP00000347684.5:p.Cys118Phe

Variation displays