Original source

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

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

Chromosome 17:42988645 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM021608 ; PhenCode HIFD_GFAP:c.1086G>C (C/G)

Most severe consequence
Evidence status

Clinical significance

This variation has 5 synonyms - click the plus to show

This variation has 14 HGVS names - click the plus to show

17:g.42988645C>G
ENST00000587997.1:c.562G>C
ENSP00000465624.1:p.Glu188Asp
ENST00000592320.1:c.663G>C
ENSP00000465320.1:p.Glu221Asp
ENST00000435360.2:c.1086G>C
ENSP00000403962.1:p.Glu362Asp
ENST00000253408.5:c.1086G>C
ENSP00000253408.4:p.Glu362Asp
ENST00000586793.1:c.1086G>C
ENSP00000468500.1:p.Glu362Asp
ENST00000588640.1:n.466G>C
ENST00000585543.1:n.239G>C
ENST00000588735.1:c.83-3161G>C

Variation displays