Original source

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

Alleles
G/C | Ancestral: G | Ambiguity code: S
Location

Chromosome 17:75316275 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CR053509

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB NM_006640.4:c.-134G>C

This variation has 26 HGVS names - click the plus to show

HSCHR17_3_CTG4:g.75327897G>C
ENST00000576977.1:c.-134G>C
17:g.75316275G>C
ENST00000571241.1:c.-417+12996G>C
ENST00000587371.1:c.*71+12996G>C
ENST00000591198.1:c.19+38639G>C
ENST00000588583.1:c.19+38639G>C
ENST00000590294.1:c.-134G>C
ENST00000576289.2:c.-417+12996G>C
ENST00000587968.1:c.-134G>C
ENST00000591138.1:c.*76+12996G>C
ENST00000587284.1:n.406+12996G>C
ENST00000588775.1:c.36+390G>C
ENST00000449803.2:c.-417+12996G>C
ENST00000590595.1:c.36+390G>C
ENST00000431235.2:c.-417+12996G>C
ENST00000329047.8:c.-134G>C
ENST00000593070.1:c.31+39387G>C
ENST00000589070.1:c.31+39387G>C
ENST00000589546.1:c.36+390G>C
ENST00000590576.1:c.*76+12996G>C
ENST00000587237.1:n.406+12996G>C
ENST00000588575.1:c.36+390G>C
ENST00000574891.1:c.76+12996G>C
ENST00000427177.1:c.76+12996G>C
ENST00000591833.1:c.*71+12996G>C

Variation displays