Original source

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

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

Chromosome 1:173904038 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM910058, CM890017 ; ESP rs28930978 (C/A)

Most severe consequence
Evidence status

Clinical significance

This variation has 6 synonyms - click the plus to show

This variation has 10 HGVS names - click the plus to show

Variant allele A
1:g.173904038C>A
ENST00000367698.3:c.1246G>T
ENSP00000356671.3:p.Ala416Ser
ENST00000617423.2:c.631G>T
ENSP00000478688.1:p.Ala211Ser

Variant allele G
1:g.173904038C>G
ENST00000367698.3:c.1246G>C
ENSP00000356671.3:p.Ala416Pro
ENST00000617423.2:c.631G>C
ENSP00000478688.1:p.Ala211Pro

Genotyping chips

This variation has assays on: Illumina_ExomeChip, HumanCoreExome-12

Variation displays