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 5:137870815 (forward strand) | View in location tab

Co-located

with COSMIC COSM589533 (C/T) ; HGMD-PUBLIC CM023181 ; PhenCode MYOT:c.164C>T (C/T)

Most severe consequence
Clinical significance

Synonyms

LSDB 12385

This variation has 11 HGVS names - click the plus to show

5:g.137870815C>T
ENST00000514616.3:n.301-11552G>A
ENST00000511625.3:n.179+290C>T
ENST00000239926.6:c.164C>T
ENSP00000239926.4:p.Ser55Phe
ENST00000509812.3:n.179+290C>T
ENST00000515645.1:c.-120-62C>T
ENST00000421631.4:c.-197+290C>T
LRG_201:g.7960C>T
LRG_201t1.1:c.164C>T
LRG_201p1.1:p.Ser55Phe

Variation displays