Original source

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

Alleles
C/A | Ancestral: C | Ambiguity code: M | MAF: 0.01 (A)
Location

Chromosome 8:16168568 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM023578

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 12 HGVS names - click the plus to show

8:g.16168568C>A
ENST00000350896.3:c.520G>T
ENSP00000262100.3:p.Asp174Tyr
ENST00000355282.4:c.520G>T
ENSP00000347430.2:p.Asp174Tyr
ENST00000519060.4:c.104-4317G>T
ENST00000445506.4:c.574G>T
ENSP00000405453.2:p.Asp192Tyr
ENST00000262101.7:c.520G>T
ENSP00000262101.5:p.Asp174Tyr
ENST00000381998.6:c.520G>T
ENSP00000371428.4:p.Asp174Tyr

Genotyping chips

This variation has assays on: Illumina_ExomeChip, Illumina_HumanOmni5

Variation displays