Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y | MAF: < 0.01 (T)
Location

Chromosome 13:103513971 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM970446

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 1782

This variation has 8 HGVS names - click the plus to show

13:g.103513971C>T
ENST00000602836.1:c.2063C>T
ENSP00000473384.1:p.Arg689Ter
ENST00000355739.4:c.787C>T
ENSP00000347978.4:p.Arg263Ter
LRG_464:g.20798C>T
LRG_464t1.1:c.787C>T
LRG_464p1.1:p.Arg263Ter

Variation displays