Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

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

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

Co-located variant

HGMD-PUBLIC CM073304

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 10270

HGVS names

This variant has 18 HGVS names - Hide

Variant allele A
11:g.47448832C>A
ENST00000352508.7:c.133G>T
ENSP00000298853.3:p.Val45Leu
ENST00000298854.6:c.133G>T
ENSP00000298854.2:p.Val45Leu
ENST00000529341.1:c.133G>T
ENSP00000431732.1:p.Val45Leu
ENST00000524487.5:c.133G>T
ENSP00000435551.2:p.Val45Leu

Variant allele T
11:g.47448832C>T
ENST00000352508.7:c.133G>A
ENSP00000298853.3:p.Val45Met
ENST00000298854.6:c.133G>A
ENSP00000298854.2:p.Val45Met
ENST00000529341.1:c.133G>A
ENSP00000431732.1:p.Val45Met
ENST00000524487.5:c.133G>A
ENSP00000435551.2:p.Val45Met

About this variant

This variant overlaps 8 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays