Original source

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

Alleles
T/C | Ancestral: C | Ambiguity code: Y | MAF: 0.22 (T)
Location

Chromosome 12:111446804 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM084630

Most severe consequence
Evidence status

This variation has 4 synonyms - click the plus to show

This variation has 10 HGVS names - click the plus to show

12:g.111446804T>C
ENST00000341259.5:c.784T>C
ENSP00000345492.2:p.Trp262Arg
ENST00000538307.1:c.178T>C
ENSP00000440597.1:p.Trp60Arg
LRG_621:g.45857T>C
LRG_621t1:c.784T>C
LRG_621p1:p.Trp262Arg
LRG_621t2:c.178T>C
LRG_621p2:p.Trp60Arg

This variation has assays on 13 chips - click the plus to show

About this variant

This variant overlaps 5 transcripts, has 2166 individual genotypes, is associated with 15 phenotypes and is mentioned in 108 citations.

Variation displays