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
Location

Chromosome 11:47441716 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM035482

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 10265, 2010_April_001_285_RAPSN_601592_0005

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

11:g.47441716G>T
ENST00000352508.4:c.789+107C>A
ENST00000298854.3:c.807C>A
ENSP00000298854.2:p.Tyr269Ter
ENST00000529341.1:c.789+107C>A
ENST00000524487.2:c.648C>A
ENSP00000435551.1:p.Tyr216Ter
ENST00000528356.1:n.16C>A

Variation displays