Original source

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

Alleles
A/G | Ancestral: A | Ambiguity code: R | MAF: 0.01 (G)
Location

Chromosome 11:112087953 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM022244

Most severe consequence
Evidence status

Clinical significance

This variation has 4 synonyms - click the plus to show

This variation has 21 HGVS names - click the plus to show

11:g.112087953A>G
ENST00000528182.2:c.149A>G
ENSP00000435475.1:p.His50Arg
ENST00000525987.2:n.154A>G
ENST00000526592.2:c.149A>G
ENSP00000432005.1:p.His50Arg
ENST00000614349.1:c.149A>G
ENSP00000480666.1:p.His50Arg
ENST00000532699.1:c.149A>G
ENSP00000456434.1:p.His50Arg
ENST00000375549.4:c.149A>G
ENSP00000364699.3:p.His50Arg
ENST00000528021.2:c.149A>G
ENSP00000432465.1:p.His50Arg
ENST00000525291.2:c.53-914A>G
ENST00000531744.2:c.149A>G
ENSP00000456957.1:p.His50Arg
ENST00000530923.2:c.139A>G
ENSP00000432946.1:p.His47Arg
ENST00000528048.2:c.149A>G
ENSP00000436217.1:p.His50Arg

Genotyping chips

This variation has assays on: Illumina_ExomeChip, Illumina_HumanOmni1-Quad, Illumina_HumanOmni5

Variation displays