Original source

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

Alleles
C/A | Ancestral: C | Ambiguity code: M | MAF: 0.24 (A)
Location

Chromosome 4:41257616 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM994452

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 18 HGVS names - click the plus to show

4:g.41257616C>A
ENST00000504818.2:n.320C>A
ENST00000512788.1:c.53C>A
ENSP00000423623.1:p.Ser18Tyr
ENST00000508768.2:c.53C>A
ENSP00000426895.1:p.Ser18Tyr
ENST00000512419.2:c.52C>A
ENSP00000425714.1:p.Pro18Thr
ENST00000514924.2:c.53C>A
ENSP00000426634.1:p.Ser18Tyr
ENST00000381760.5:n.604C>A
ENST00000472501.2:n.577C>A
ENST00000284440.5:c.53C>A
ENSP00000284440.4:p.Ser18Tyr
ENST00000503431.2:c.53C>A
ENSP00000422542.1:p.Ser18Tyr
ENST00000505232.2:c.53C>A
ENSP00000423348.1:p.Ser18Tyr

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays