Original source

Variants (including SNPs and indels) imported from dbSNP (release 138) | View in dbSNP

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

Chromosome 11:46749554 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM920246

Most severe consequence
Clinical significance

Synonyms

LSDB 4984

This variation has 5 HGVS names - click the plus to show

11:g.46749554T>C
ENST00000530231.1:c.1139T>C
ENSP00000433907.1:p.Met380Thr
ENST00000311907.5:c.1139T>C
ENSP00000308541.5:p.Met380Thr

Variation displays