Original source

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

Alleles
G/T | Ancestral: G | Ambiguity code: K
Location

Chromosome 5:137206624 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM041094 ; PhenCode MYOT:c.284G>T (G/T)

Most severe consequence
Clinical significance

Synonyms

LSDB 12388

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

5:g.137206624G>T
ENST00000514616.1:n.301-11672C>A
ENST00000511625.1:n.179+410G>T
ENST00000239926.4:c.284G>T
ENSP00000239926.4:p.Ser95Ile
ENST00000515645.1:c.-62G>T
ENST00000509812.1:n.179+410G>T
ENST00000421631.2:c.-197+410G>T
LRG_201:g.8080G>T
LRG_201t1.1:c.284G>T
LRG_201p1.1:p.Ser95Ile

Variation displays