Original source

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

Alleles
G/C | Ancestral: G | Ambiguity code: S | MAF: 0.01 (C)
Location

Chromosome 1:17054012 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM083557

Most severe consequence
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

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

1:g.17054012G>C
ENST00000375499.4:c.8C>G
ENSP00000364649.3:p.Ala3Gly
ENST00000466613.2:n.20C>G
LRG_316:g.5159C>G
LRG_316t1.1:c.8C>G
LRG_316p1.1:p.Ala3Gly

Genotyping chips

This variation has assays on: Illumina_ExomeChip, Illumina_HumanOmni1-Quad

Variation displays