Original source

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

Alleles
C/A | Ancestral: C | Ambiguity code: M
Location

Chromosome 17:4805227 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM970307

Most severe consequence
Clinical significance

This variation has 5 HGVS names - click the plus to show

17:g.4805227C>A
ENST00000575637.1:n.274+47G>T
ENST00000293780.4:c.500G>T
ENSP00000293780.4:p.Arg167Leu
ENST00000381365.3:c.*1399C>A

Variation displays