Original source

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

Alleles
C/A | Ancestral: C | Ambiguity code: M | MAF: < 0.01 (A)
Location

Chromosome 8:96160568 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM0910801

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

8:g.96160568C>A
ENST00000287020.6:c.125G>T
ENSP00000287020.4:p.Gly42Val
ENST00000620978.1:c.125G>T
ENSP00000480170.1:p.Gly42Val
ENST00000621429.1:c.125G>T
ENSP00000483711.1:p.Gly42Val

Genotyping chips

This variation has assays on: Illumina_ExomeChip, HumanCoreExome-12

Variation displays