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 10:80275054 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM950787

Most severe consequence
Clinical significance

Synonyms

LSDB 16771

This variation has 5 HGVS names - click the plus to show

10:g.80275054A>G
ENST00000480845.1:n.146T>C
ENST00000372213.5:c.914T>C
ENSP00000361287.3:p.Leu305Pro
ENST00000485270.3:n.426T>C

Variation displays