Original source

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

Alleles
C/A | Ancestral: C | Ambiguity code: M
Location

Chromosome 17:42989119 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM023074 ; PhenCode HIFD_GFAP:c.827G>T (C/A)

Most severe consequence
Evidence status

Clinical significance

This variation has 4 synonyms - click the plus to show

This variation has 19 HGVS names - click the plus to show

17:g.42989119C>A
ENST00000587997.1:c.303G>T
ENSP00000465624.1:p.Arg102Leu
ENST00000591719.1:n.461G>T
ENST00000588316.1:c.731G>T
ENSP00000465629.1:p.Arg244Leu
ENST00000588957.1:c.95G>T
ENSP00000465565.1:p.Arg32Leu
ENST00000376990.4:c.*226G>T
ENST00000592320.1:c.619-430G>T
ENST00000435360.2:c.827G>T
ENSP00000403962.1:p.Arg276Leu
ENST00000253408.5:c.827G>T
ENSP00000253408.4:p.Arg276Leu
ENST00000586793.1:c.827G>T
ENSP00000468500.1:p.Arg276Leu
ENST00000588640.1:n.207G>T
ENST00000590922.1:n.477G>T
ENST00000588735.1:c.83-3635G>T

Variation displays