Original source

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

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

Chromosome 17:77402298 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM053400 ; PhenCode IPNMDB_782 (C/T)

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 12357, NM_006640.4:c.262C>T

This variation has 32 HGVS names - click the plus to show

17:g.77402298C>T
ENST00000427674.3:c.-177C>T
ENST00000592098.1:n.346C>T
ENST00000591198.2:c.259C>T
ENSP00000468406.1:p.Arg87Trp
ENST00000590294.2:c.262C>T
ENSP00000465464.1:p.Arg88Trp
ENST00000590059.2:c.25-258C>T
ENST00000449803.3:c.-177C>T
ENST00000590595.1:c.37-39C>T
ENST00000431235.3:c.-177C>T
ENST00000586812.1:n.375C>T
ENST00000329047.9:c.262C>T
ENSP00000329161.8:p.Arg88Trp
ENST00000587514.1:n.445C>T
ENST00000589070.1:c.271C>T
ENSP00000465332.1:p.Arg91Trp
ENST00000590586.1:n.421C>T
ENST00000588690.2:c.-177C>T
ENST00000590825.1:c.-177C>T
ENST00000590576.2:c.*316C>T
ENST00000591833.2:c.*311C>T
ENST00000591934.1:c.337C>T
ENSP00000468504.1:p.Arg113Trp
ENST00000427177.2:c.316C>T
ENSP00000391249.1:p.Arg106Trp
ENST00000588575.1:c.37-39C>T
ENST00000589140.1:c.271C>T
ENSP00000466997.1:p.Arg91Trp
ENST00000592420.1:c.-258C>T
ENST00000423034.3:c.295C>T
ENSP00000405877.1:p.Arg99Trp

Variation displays