Original source

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

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

Chromosome 2:128186178 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM870018

Most severe consequence
Clinical significance

Synonyms

LSDB 17259

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

2:g.128186178C>T
ENST00000409048.1:c.1144C>T
ENSP00000386679.1:p.Arg382Ter
ENST00000402125.2:c.366C>T
ENSP00000384225.2:p.Arg123Ter
ENST00000422777.3:c.1042C>T
ENSP00000409543.3:p.Arg348Ter
ENST00000234071.3:c.1042C>T
ENSP00000234071.3:p.Arg348Ter
ENST00000453608.2:c.1207C>T
ENSP00000404030.2:p.Arg403Ter

Variation displays