Original source

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

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

Chromosome 9:32974493 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM012898

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_011_APTX_606350_0006, 13721

This variation has 31 HGVS names - click the plus to show

9:g.32974493C>T
ENST00000485479.1:c.*567G>A
ENST00000479656.1:c.*682G>A
ENST00000379813.3:c.837G>A
ENSP00000369141.3:p.Trp279Ter
ENST00000397172.3:c.663G>A
ENSP00000380357.3:p.Trp221Ter
ENST00000463596.1:c.837G>A
ENSP00000419846.1:p.Trp279Ter
ENST00000309615.3:c.879G>A
ENSP00000311547.3:p.Trp293Ter
ENST00000465003.1:c.*464G>A
ENST00000482687.1:c.*31G>A
ENST00000379825.2:c.879G>A
ENSP00000369153.2:p.Trp293Ter
ENST00000495360.1:c.*567G>A
ENST00000436040.2:c.*31G>A
ENST00000494649.1:c.*682G>A
ENST00000476858.1:c.717G>A
ENSP00000419042.1:p.Trp239Ter
ENST00000467331.1:c.*682G>A
ENST00000379817.2:c.837G>A
ENSP00000369145.2:p.Trp279Ter
ENST00000460940.1:c.*455G>A
ENST00000474658.2:c.*280G>A
ENST00000379819.1:c.879G>A
ENSP00000369147.1:p.Trp293Ter
ENST00000483148.1:c.*237G>A
ENST00000472896.1:c.*340G>A
ENST00000468275.1:c.837G>A
ENSP00000420263.1:p.Trp279Ter

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays