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 11:46748113 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM950382

Most severe consequence
Clinical significance

Synonyms

LSDB 4980

This variation has 7 HGVS names - click the plus to show

11:g.46748113C>T
ENST00000530231.1:c.940C>T
ENSP00000433907.1:p.Arg314Cys
ENST00000311907.5:c.940C>T
ENSP00000308541.5:p.Arg314Cys
ENST00000442468.1:c.910C>T
ENSP00000387413.1:p.Arg304Cys

Variation displays