Original source

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

Alleles
C/A/G | Ancestral: C | Ambiguity code: V | MAF: < 0.01 (A)
Location

Chromosome 1:173873176 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM890017, CM910058

Most severe consequence
Evidence status

Clinical significance

This variation has 7 synonyms - click the plus to show

This variation has 6 HGVS names - click the plus to show

Variant allele A
1:g.173873176C>A
ENST00000367698.3:c.1246G>T
ENSP00000356671.3:p.Ala416Ser

Variant allele G
1:g.173873176C>G
ENST00000367698.3:c.1246G>C
ENSP00000356671.3:p.Ala416Pro

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays