Original source

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

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

Chromosome 9:32974542 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM012897

Most severe consequence
Clinical significance

Synonyms

LSDB 13719

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

9:g.32974542A>C
ENST00000485479.1:c.*518T>G
ENST00000479656.1:c.*633T>G
ENST00000379813.3:c.788T>G
ENSP00000369141.3:p.Val263Gly
ENST00000397172.3:c.614T>G
ENSP00000380357.3:p.Val205Gly
ENST00000463596.1:c.788T>G
ENSP00000419846.1:p.Val263Gly
ENST00000465003.1:c.*415T>G
ENST00000309615.3:c.830T>G
ENSP00000311547.3:p.Val277Gly
ENST00000379825.2:c.830T>G
ENSP00000369153.2:p.Val277Gly
ENST00000482687.1:c.561T>G
ENSP00000419289.1:p.Cys187Trp
ENST00000495360.1:c.*518T>G
ENST00000436040.2:c.561T>G
ENSP00000400806.2:p.Cys187Trp
ENST00000494649.1:c.*633T>G
ENST00000476858.1:c.668T>G
ENSP00000419042.1:p.Val223Gly
ENST00000467331.1:c.*633T>G
ENST00000379817.2:c.788T>G
ENSP00000369145.2:p.Val263Gly
ENST00000460940.1:c.*406T>G
ENST00000474658.2:c.*231T>G
ENST00000379819.1:c.830T>G
ENSP00000369147.1:p.Val277Gly
ENST00000483148.1:c.*188T>G
ENST00000468275.1:c.788T>G
ENSP00000420263.1:p.Val263Gly
ENST00000472896.1:c.*291T>G

Variation displays