Original source

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

Alleles
T/C | Ancestral: T | Ambiguity code: Y
Location

Chromosome 8:100830701 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM045439

Most severe consequence
Clinical significance

Synonyms

LSDB 15260

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

8:g.100830701T>C
ENST00000395996.1:c.*4242T>C
ENST00000358544.2:c.8459T>C
ENSP00000351346.2:p.Ile2820Thr
ENST00000357162.2:c.8384T>C
ENSP00000349685.2:p.Ile2795Thr

Variation displays