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 2:127426180 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM880060 ; ESP rs28933986 (C/T)

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

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

2:g.127426180C>T
ENST00000402125.2:c.121-2177C>T
ENST00000409048.1:c.733C>T
ENSP00000386679.1:p.Arg245Trp
ENST00000464089.1:n.217C>T
ENST00000234071.5:c.631C>T
ENSP00000234071.3:p.Arg211Trp

Genotyping chips

This variation has assays on: HumanCoreExome-12

Variation displays