Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R | MAF: 0.02 (A)
Location

Chromosome 19:8364439 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM071551

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 21 HGVS names - click the plus to show

19:g.8364439G>A
ENST00000595079.3:c.118G>A
ENSP00000473025.1:p.Glu40Lys
ENST00000593998.3:c.118G>A
ENSP00000472551.1:p.Glu40Lys
ENST00000601886.1:c.118G>A
ENSP00000470307.1:p.Glu40Lys
ENST00000393962.4:c.118G>A
ENSP00000377534.1:p.Glu40Lys
ENST00000351593.7:c.-88+80567C>T
ENST00000598255.3:n.274G>A
ENST00000594348.1:n.271G>A
ENST00000597137.3:n.64+1077G>A
ENST00000599192.3:c.118G>A
ENSP00000473090.1:p.Glu40Lys
ENST00000594875.1:c.42G>A
ENSP00000472869.1:p.Glu15Lys
ENST00000301455.4:c.118G>A
ENSP00000301455.1:p.Glu40Lys
ENST00000601770.1:c.118G>A
ENSP00000471345.1:p.Glu40Lys

Genotyping chips

This variation has assays on: Illumina_ExomeChip, HumanCoreExome-12

Variation displays