Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

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

Chromosome 9:32984799 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM025985

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 13720

This variation has 42 HGVS names - click the plus to show

9:g.32984799T>C
ENST00000485479.4:c.*332A>G
ENST00000480031.4:c.*396A>G
ENST00000479656.4:c.*447A>G
ENST00000379813.6:c.584A>G
ENSP00000369141.4:p.His195Arg
ENST00000397172.6:c.428A>G
ENSP00000380357.3:p.His143Arg
ENST00000463596.4:c.602A>G
ENSP00000419846.1:p.His201Arg
ENST00000309615.6:c.440A>G
ENSP00000311547.4:p.His147Arg
ENST00000465003.4:c.*229A>G
ENST00000478279.4:c.*229A>G
ENST00000379812.8:c.428A>G
ENSP00000369140.5:p.His143Arg
ENST00000464632.4:c.*332A>G
ENST00000379825.5:c.644A>G
ENSP00000369153.2:p.His215Arg
ENST00000482687.4:c.543+1172A>G
ENST00000473221.4:c.482A>G
ENSP00000419020.1:p.His161Arg
ENST00000495360.4:c.*332A>G
ENST00000486724.4:n.338A>G
ENST00000477119.1:c.440A>G
ENSP00000417649.1:p.His147Arg
ENST00000436040.5:c.602A>G
ENSP00000400806.3:p.His201Arg
ENST00000494649.4:c.*447A>G
ENST00000476858.4:c.482A>G
ENSP00000419042.1:p.His161Arg
ENST00000467331.4:c.*447A>G
ENST00000379817.5:c.602A>G
ENSP00000369145.2:p.His201Arg
ENST00000460940.4:c.*388+1172A>G
ENST00000379819.4:c.644A>G
ENSP00000369147.1:p.His215Arg
ENST00000474658.5:c.*45A>G
ENST00000483148.4:c.*170+1172A>G
ENST00000468275.4:c.602A>G
ENSP00000420263.1:p.His201Arg
ENST00000472896.4:c.*273+1172A>G

About this variant

This variant overlaps 32 transcripts and is associated with 2 phenotypes.

Variation displays