Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

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

Chromosome 16:89546737 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM085726

Most severe consequence
Evidence status

Clinical significance

Synonyms

Uniprot VAR_063609

This variation has 10 HGVS names - click the plus to show

16:g.89546737C>T
ENST00000268704.4:c.1529C>T
ENSP00000268704.2:p.Ala510Val
ENST00000620811.2:c.-48C>T
ENST00000563218.3:n.255C>T
ENST00000561911.3:c.74C>T
ENSP00000457387.1:p.Ala25Val
ENST00000566221.3:c.127C>T
ENSP00000457298.1:p.Ala43Val
ENST00000569820.3:c.*202C>T

Genotyping chips

This variation has assays on: Illumina_ExomeChip, HumanCoreExome-12

Variation displays