Original source

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

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

Chromosome 9:32974544 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM012897

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 13719

This variant has 33 HGVS names - click the plus to show

9:g.32974544A>C
ENST00000485479.5:c.*518T>G
ENST00000479656.5:c.*633T>G
ENST00000379813.7:c.770T>G
ENSP00000369141.4:p.Val257Gly
ENST00000463596.5:c.788T>G
ENSP00000419846.1:p.Val263Gly
ENST00000397172.7:c.614T>G
ENSP00000380357.3:p.Val205Gly
ENST00000309615.7:c.626T>G
ENSP00000311547.4:p.Val209Gly
ENST00000465003.5:c.*415T>G
ENST00000379825.6:c.830T>G
ENSP00000369153.2:p.Val277Gly
ENST00000482687.5:c.561T>G
ENSP00000419289.1:p.Cys187Trp
ENST00000495360.5:c.*518T>G
ENST00000436040.6:c.788T>G
ENSP00000400806.3:p.Val263Gly
ENST00000494649.5:c.*633T>G
ENST00000476858.5:c.668T>G
ENSP00000419042.1:p.Val223Gly
ENST00000467331.5:c.*633T>G
ENST00000379817.6:c.788T>G
ENSP00000369145.2:p.Val263Gly
ENST00000460940.5:c.*406T>G
ENST00000379819.5:c.830T>G
ENSP00000369147.1:p.Val277Gly
ENST00000474658.6:c.*231T>G
ENST00000483148.5:c.*188T>G
ENST00000472896.5:c.*291T>G
ENST00000468275.5:c.788T>G
ENSP00000420263.1:p.Val263Gly

About this variant

This variant overlaps 21 transcripts and is associated with 2 phenotypes.

Variant displays