Original source

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

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

Chromosome 8:100729447 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM031145

Most severe consequence
Clinical significance

Synonyms

LSDB 15252

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

8:g.100729447T>G
ENST00000358544.2:c.6578T>G
ENSP00000351346.2:p.Leu2193Arg
ENST00000395996.1:c.*2361T>G
ENST00000357162.2:c.6503T>G
ENSP00000349685.2:p.Leu2168Arg

Variation displays