Original source

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

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

Chromosome 20:34292375 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM045449

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 5341

This variation has 7 HGVS names - click the plus to show

20:g.34292375T>C
ENST00000468908.1:n.591A>G
ENST00000217426.3:c.428A>G
ENSP00000217426.2:p.Tyr143Cys
ENST00000538132.1:c.344A>G
ENSP00000442820.1:p.Tyr115Cys
ENST00000480653.2:n.475A>G

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays