Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y | MAF: < 0.01 (T)
Location

Chromosome 17:48728343 (forward strand) | View in location tab

Most severe consequence
Evidence status

This variation has 6 HGVS names - click the plus to show

17:g.48728343C>T
ENST00000290295.7:c.251G>A
ENSP00000290295.7:p.Gly84Glu
LRG_771:g.5407G>A
LRG_771t1.1:c.251G>A
LRG_771p1.1:p.Gly84Glu

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays