Original source

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

Alleles
G/A/T | Ancestral: G | Ambiguity code: D | MAF: < 0.01 (T)
Location

Chromosome 19:18893939 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM030030

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 11 HGVS names - click the plus to show

Variant allele A
19:g.18893939G>A
ENST00000542601.2:c.2053C>T
ENSP00000439156.2:p.Arg685Trp
ENST00000425807.1:c.1993C>T
ENSP00000403792.1:p.Arg665Trp
ENST00000222271.2:c.2152C>T
ENSP00000222271.2:p.Arg718Trp

Variant allele T
19:g.18893939G>T
ENST00000542601.2:c.2053C>A
ENST00000425807.1:c.1993C>A
ENST00000222271.2:c.2152C>A

Genotyping chips

This variation has assays on: Illumina_1M-duo

Variation displays