Original source

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

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

Chromosome 11:47441675 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM064189

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_286_RAPSN_601592_0007, 10267

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

11:g.47441675A>G
ENST00000352508.5:c.789+148T>C
ENST00000298854.4:c.848T>C
ENSP00000298854.2:p.Leu283Pro
ENST00000529341.1:c.789+148T>C
ENST00000524487.3:c.689T>C
ENSP00000435551.2:p.Leu230Pro
ENST00000528356.1:n.57T>C

Variation displays