Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 17:44913334 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM010049 ; PhenCode HIFD_GFAP:c.715C>T (G/A)

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 17 HGVS names - click the plus to show

17:g.44913334G>A
ENST00000587997.2:c.191C>T
ENSP00000465624.1:p.Arg65Cys
ENST00000585728.2:c.*359C>T
ENST00000588316.1:c.619C>T
ENSP00000465629.1:p.Arg207Cys
ENST00000588957.2:c.-18C>T
ENST00000376990.5:c.*114C>T
ENST00000592320.2:c.618+394C>T
ENST00000435360.3:c.715C>T
ENSP00000403962.1:p.Arg239Cys
ENST00000253408.6:c.715C>T
ENSP00000253408.4:p.Arg239Cys
ENST00000586793.2:c.715C>T
ENSP00000468500.1:p.Arg239Cys
ENST00000590922.1:n.365C>T
ENST00000588735.1:c.82+2071C>T

Variation displays