Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y | MAF: < 0.01 (T)
Location

Chromosome 16:89613145 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM085726

Most severe consequence
Evidence status

Synonyms

Uniprot VAR_063609

This variation has 9 HGVS names - click the plus to show

16:g.89613145C>T
ENST00000268704.2:c.1529C>T
ENSP00000268704.2:p.Ala510Val
ENST00000563218.1:n.255C>T
ENST00000561911.1:c.74C>T
ENSP00000457387.1:p.Ala25Val
ENST00000566221.1:c.127C>T
ENSP00000457298.1:p.Ala43Val
ENST00000569820.1:c.*202C>T

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays