Original source

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

Alleles
G/C | Ancestral: G | Ambiguity code: S
Location

Chromosome 2:128186468 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM870019

Most severe consequence
Clinical significance

Synonyms

LSDB 17260

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

2:g.128186468G>C
ENST00000409048.1:c.1434G>C
ENSP00000386679.1:p.Trp478Cys
ENST00000402125.2:c.656G>C
ENSP00000384225.2:p.Trp219Cys
ENST00000422777.3:c.1332G>C
ENSP00000409543.3:p.Trp444Cys
ENST00000234071.3:c.1332G>C
ENSP00000234071.3:p.Trp444Cys
ENST00000453608.2:c.1497G>C
ENSP00000404030.2:p.Trp499Cys

Variation displays