Original source

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

Alleles
G/T | Ancestral: G | Ambiguity code: K
Location

Chromosome 8:96145185 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM082790

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 9953

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

8:g.96145185G>T
ENST00000287020.6:c.746C>A
ENSP00000287020.4:p.Ala249Glu
ENST00000620978.1:c.707-23C>A
ENST00000621429.1:c.746C>A
ENSP00000483711.1:p.Ala249Glu

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays