Original source

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

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

Chromosome X:111401108 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM013361

Most severe consequence
Evidence status

Clinical significance

This variation has 5 synonyms - click the plus to show

This variation has 12 HGVS names - click the plus to show

X:g.111401108C>T
ENST00000371993.3:c.587G>A
ENSP00000361061.2:p.Arg196His
ENST00000496551.1:n.827G>A
ENST00000356220.4:c.587G>A
ENSP00000348553.3:p.Arg196His
ENST00000338081.4:c.830G>A
ENSP00000337697.3:p.Arg277His
ENST00000358070.5:c.805G>A
ENSP00000350776.4:p.Arg269His
ENST00000488120.1:c.587G>A
ENSP00000419861.1:p.Arg196His

Genotyping chips

This variation has assays on: Illumina_1M-duo

Variation displays