Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 1:25809753 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM022836 ; PhenCode SEPN1:c.943G>A (G/A)

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB NM_020451.2:c.943G>A, 13661

This variation has 7 HGVS names - click the plus to show

1:g.25809753G>A
ENST00000361547.4:c.943G>A
ENSP00000355141.2:p.Gly315Ser
ENST00000354177.6:c.841G>A
ENSP00000346109.4:p.Gly281Ser
ENST00000374315.1:c.841G>A
ENSP00000363434.1:p.Gly281Ser

Genotyping chips

This variation has assays on: Illumina_ExomeChip, HumanCoreExome-12

Variation displays