Original source

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

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

Chromosome 17:75398396 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM053401 ; PhenCode IPNMDB_783 (C/T)

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB NM_006640.4:c.278C>T, 12358

This variation has 64 HGVS names - click the plus to show

17:g.75398396C>T
ENST00000427674.2:c.-161C>T
HSCHR17_3_CTG4:g.75410018C>T
ENST00000571241.1:c.-161C>T
ENST00000590451.1:c.25-242C>T
ENST00000592025.1:n.437C>T
ENST00000591426.1:c.353C>T
ENSP00000467586.1:p.Ser118Phe
ENST00000576289.2:c.-161C>T
ENST00000590059.1:c.25-242C>T
ENST00000587968.1:c.278C>T
ENSP00000465173.1:p.Ser93Phe
ENST00000573468.2:c.311C>T
ENSP00000458910.1:p.Ser104Phe
ENST00000449803.2:c.-161C>T
ENST00000588775.1:c.37-23C>T
ENST00000431235.2:c.-161C>T
ENST00000586105.1:c.-161C>T
ENST00000589070.1:c.287C>T
ENSP00000465332.1:p.Ser96Phe
ENST00000589546.1:c.37-23C>T
ENST00000590338.1:c.-161C>T
ENST00000574891.1:c.332C>T
ENSP00000461549.1:p.Ser111Phe
ENST00000592420.1:c.-242C>T
ENST00000423034.2:c.311C>T
ENSP00000405877.1:p.Ser104Phe
ENST00000576977.1:c.278C>T
ENSP00000460394.1:p.Ser93Phe
ENST00000587371.1:c.*327C>T
ENST00000592098.1:n.362C>T
ENST00000591198.1:c.275C>T
ENSP00000468406.1:p.Ser92Phe
ENST00000590294.1:c.278C>T
ENSP00000465464.1:p.Ser93Phe
ENST00000588583.1:c.275C>T
ENSP00000467378.1:p.Ser92Phe
ENST00000588091.1:n.362C>T
ENST00000574362.2:c.-161C>T
ENST00000590911.1:c.-242C>T
ENST00000591138.1:c.*332C>T
ENST00000590595.1:c.37-23C>T
ENST00000588045.1:c.287C>T
ENSP00000468567.1:p.Ser96Phe
ENST00000586812.1:n.391C>T
ENST00000329047.8:c.278C>T
ENSP00000329161.8:p.Ser93Phe
ENST00000593070.1:c.287C>T
ENSP00000467786.1:p.Ser96Phe
ENST00000587514.1:n.461C>T
ENST00000590586.1:n.437C>T
ENST00000587141.1:n.391C>T
ENST00000588690.1:c.-161C>T
ENST00000591071.1:n.461C>T
ENST00000590576.1:c.*332C>T
ENST00000590825.1:c.-161C>T
ENST00000591833.1:c.*327C>T
ENST00000588575.1:c.37-23C>T
ENST00000591934.1:c.353C>T
ENSP00000468504.1:p.Ser118Phe
ENST00000427177.1:c.332C>T
ENSP00000391249.1:p.Ser111Phe
ENST00000589140.1:c.287C>T
ENSP00000466997.1:p.Ser96Phe

Variation displays