Original source

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

Alleles
T/C|Ancestral: T|Ambiguity code: Y
Location

Chromosome 11:46728004 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM920246

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 4984

HGVS names

This variant has 8 HGVS names - Hide

11:g.46728004T>C
ENST00000530231.5:c.1139T>C
ENSP00000433907.1:p.Met380Thr
ENST00000311907.9:c.1139T>C
ENSP00000308541.5:p.Met380Thr
LRG_551:g.13812T>C
LRG_551t1:c.1139T>C
LRG_551p1:p.Met380Thr

About this variant

This variant overlaps 5 transcripts and is associated with 2 phenotypes.

Variant displays