Original source

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

Alleles
C/A/T | Ancestral: C | Ambiguity code: H
Location

Chromosome 11:47448832 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM073304

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 10270

This variation has 18 HGVS names - click the plus to show

Variant allele A
11:g.47448832C>A
ENST00000352508.5:c.133G>T
ENSP00000298853.3:p.Val45Leu
ENST00000298854.4:c.133G>T
ENSP00000298854.2:p.Val45Leu
ENST00000529341.1:c.133G>T
ENSP00000431732.1:p.Val45Leu
ENST00000524487.3:c.133G>T
ENSP00000435551.2:p.Val45Leu

Variant allele T
11:g.47448832C>T
ENST00000352508.5:c.133G>A
ENSP00000298853.3:p.Val45Met
ENST00000298854.4:c.133G>A
ENSP00000298854.2:p.Val45Met
ENST00000529341.1:c.133G>A
ENSP00000431732.1:p.Val45Met
ENST00000524487.3:c.133G>A
ENSP00000435551.2:p.Val45Met

Variation displays