Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

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

Chromosome 6:112061174 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM991253

Most severe consequence
Clinical significance

Synonyms

LSDB 11870

This variation has 18 HGVS names - click the plus to show

6:g.112061174T>C
ENST00000361714.3:c.232T>C
ENSP00000354734.2:p.Cys78Arg
ENST00000620524.1:c.232T>C
ENSP00000478049.1:p.Cys78Arg
ENST00000409166.3:c.-507-105T>C
ENST00000368663.3:c.166T>C
ENSP00000357652.3:p.Cys56Arg
ENST00000454589.3:c.232T>C
ENSP00000395928.1:p.Cys78Arg
ENST00000368664.5:c.286T>C
ENSP00000357653.3:p.Cys96Arg
ENST00000230529.7:c.232T>C
ENSP00000230529.5:p.Cys78Arg
ENST00000368666.4:c.286T>C
ENSP00000357655.3:p.Cys96Arg
ENST00000604763.3:c.232T>C
ENSP00000473777.1:p.Cys78Arg

Variation displays