Original source

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

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

Chromosome 11:47256877 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM990471

Most severe consequence
Clinical significance

Synonyms

LSDB 9558

This variation has 10 HGVS names - click the plus to show

11:g.47256877C>T
ENST00000378603.3:c.745C>T
ENSP00000367866.3:p.Arg249Ter
ENST00000378601.3:c.*24C>T
ENST00000256996.4:c.937C>T
ENSP00000256996.3:p.Arg313Ter
ENST00000378600.3:c.457-2511C>T
LRG_467:g.25385C>T
LRG_467t1.1:c.937C>T
LRG_467p1.1:p.Arg313Ter

Variation displays