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 11:2189135 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM981919

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 5949, NM_199292.2:c.698G>A

This variation has 16 HGVS names - click the plus to show

11:g.2189135C>T
ENST00000324155.4:c.*294G>A
ENST00000352909.3:c.605G>A
ENSP00000325951.3:p.Arg202His
ENST00000381178.1:c.698G>A
ENSP00000370571.1:p.Arg233His
ENST00000469226.1:n.354G>A
ENST00000333684.5:c.617G>A
ENSP00000328814.5:p.Arg206His
ENST00000381168.3:c.*294G>A
ENST00000416223.1:c.45G>A
ENSP00000403440.1:p.Arg16His
ENST00000412076.1:c.45G>A
ENSP00000403546.1:p.Arg16His
ENST00000381175.1:c.686G>A
ENSP00000370567.1:p.Arg229His

Variation displays