Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y
Location

Chromosome 11:17453151 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM072831

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 8 HGVS names - click the plus to show

11:g.17453151C>T
ENST00000389817.4:c.1144G>A
ENSP00000374467.3:p.Glu382Lys
ENST00000527905.2:c.1144G>A
ENSP00000431653.1:p.Glu382Lys
ENST00000532728.2:n.1175G>A
ENST00000302539.5:c.1144G>A
ENSP00000303960.4:p.Glu382Lys

Variation displays