Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [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
Clinical significance

Synonyms

LSDB 13719

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

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

Variation displays