Original source

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

Alleles
G/C | Ancestral: G | Ambiguity code: S | MAF: 0.02 (C)
Location

Chromosome 4:996555 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM930428

Most severe consequence
Evidence status

Clinical significance

This variation has 2 synonyms - click the plus to show

This variation has 9 HGVS names - click the plus to show

4:g.996555G>C
ENST00000514224.1:c.829G>C
ENSP00000425081.1:p.Gly277Arg
ENST00000514698.1:n.1332G>C
ENST00000453894.1:c.1291G>C
ENSP00000396458.1:p.Gly431Arg
ENST00000247933.4:c.1225G>C
ENSP00000247933.4:p.Gly409Arg
ENST00000502829.1:n.27G>C

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays