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 5 HGVS names - click the plus to show

12:g.111446804T>C
ENST00000341259.3:c.784T>C
ENSP00000345492.2:p.Trp262Arg
ENST00000538307.1:c.178T>C
ENSP00000440597.1:p.Trp60Arg

This variation has assays on 12 chips - click the plus to show

Variation displays