Original source

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

Alleles
G/T | Ancestral: G | Ambiguity code: K | MAF: < 0.01 (T)
Location

Chromosome 11:47448079 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM020758

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 9 HGVS names - click the plus to show

11:g.47448079G>T
ENST00000352508.4:c.264C>A
ENSP00000298853.3:p.Asn88Lys
ENST00000298854.3:c.264C>A
ENSP00000298854.2:p.Asn88Lys
ENST00000529341.1:c.264C>A
ENSP00000431732.1:p.Asn88Lys
ENST00000524487.2:c.264C>A
ENSP00000435551.1:p.Asn88Lys

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays