Original source

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

Alleles
A/G | Ancestral: A | Ambiguity code: R
Location

Chromosome 8:96145065 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM082789

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 9954, NM_001001557.1:c.866T>C

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

8:g.96145065A>G
ENST00000287020.6:c.866T>C
ENSP00000287020.4:p.Leu289Pro
ENST00000620978.1:c.793+11T>C
ENST00000621429.1:c.866T>C
ENSP00000483711.1:p.Leu289Pro

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays