Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 9:32984782 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM012896

Most severe consequence
Clinical significance

Synonyms

LSDB 13717

This variation has 41 HGVS names - click the plus to show

9:g.32984782G>A
ENST00000485479.1:c.*347C>T
ENST00000480031.1:c.*411C>T
ENST00000479656.1:c.*462C>T
ENST00000379813.3:c.617C>T
ENSP00000369141.3:p.Pro206Leu
ENST00000463596.1:c.617C>T
ENSP00000419846.1:p.Pro206Leu
ENST00000397172.3:c.443C>T
ENSP00000380357.3:p.Pro148Leu
ENST00000309615.3:c.659C>T
ENSP00000311547.3:p.Pro220Leu
ENST00000465003.1:c.*244C>T
ENST00000478279.1:c.*244C>T
ENST00000379812.5:c.443C>T
ENSP00000369140.5:p.Pro148Leu
ENST00000464632.1:c.*347C>T
ENST00000482687.1:c.543+1187C>T
ENST00000379825.2:c.659C>T
ENSP00000369153.2:p.Pro220Leu
ENST00000473221.1:c.497C>T
ENSP00000419020.1:p.Pro166Leu
ENST00000495360.1:c.*347C>T
ENST00000477119.1:c.455C>T
ENSP00000417649.1:p.Pro152Leu
ENST00000486724.1:n.353C>T
ENST00000436040.2:c.543+1187C>T
ENST00000494649.1:c.*462C>T
ENST00000476858.1:c.497C>T
ENSP00000419042.1:p.Pro166Leu
ENST00000467331.1:c.*462C>T
ENST00000379817.2:c.617C>T
ENSP00000369145.2:p.Pro206Leu
ENST00000460940.1:c.*388+1187C>T
ENST00000379819.1:c.659C>T
ENSP00000369147.1:p.Pro220Leu
ENST00000474658.2:c.*60C>T
ENST00000483148.1:c.*170+1187C>T
ENST00000472896.1:c.*273+1187C>T
ENST00000468275.1:c.617C>T
ENSP00000420263.1:p.Pro206Leu

Variation displays