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: < 0.01 (A)
Location

Chromosome 3:165829781 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM920125

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

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

3:g.165829781C>A
ENST00000482958.1:c.1253G>T
ENSP00000419804.1:p.Gly418Val
ENST00000264381.4:c.1253G>T
ENSP00000264381.3:p.Gly418Val
ENST00000479451.2:c.107+7533G>T
ENST00000488954.1:c.107+7533G>T
ENST00000497011.2:c.1253G>T
ENSP00000419505.1:p.Gly418Val

Genotyping chips

This variation has assays on: Illumina_ExomeChip, Illumina_HumanOmni5

Variation displays