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: < 0.01 (A)
Location

Chromosome 17:80385145 (forward strand) | View in location tab

Most severe consequence
Evidence status

Clinical significance

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

17:g.80385145G>A
ENST00000427003.4:n.543G>A
ENST00000582970.2:c.14429G>A
ENSP00000464087.1:p.Arg4810Lys
ENST00000572151.1:n.190+29784C>T
ENST00000575034.2:n.190+29784C>T
ENST00000411702.4:n.3478G>A
ENST00000508628.3:c.14576G>A
ENSP00000425956.2:p.Arg4859Lys
ENST00000570776.1:n.273G>A
ENST00000573394.1:n.241-3860C>T

Genotyping chips

This variation has assays on: Illumina_HumanOmni5

Variation displays