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 7:107917349 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM970417

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 6387

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

7:g.107917349G>A
ENST00000205402.7:c.1123G>A
ENSP00000205402.3:p.Glu375Lys
ENST00000417551.3:c.1123G>A
ENSP00000390667.1:p.Glu375Lys
ENST00000437604.4:c.979G>A
ENSP00000387542.2:p.Glu327Lys
ENST00000440410.3:c.1054G>A
ENSP00000417016.1:p.Glu352Lys
ENST00000415325.3:c.*797G>A

Genotyping chips

This variation has assays on: HumanCoreExome-12

Variation displays