Original source

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

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

Chromosome 11:47447927 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM080517

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 10273

HGVS names

This variant has 9 HGVS names - Hide

11:g.47447927A>G
ENST00000352508.7:c.416T>C
ENSP00000298853.3:p.Phe139Ser
ENST00000298854.6:c.416T>C
ENSP00000298854.2:p.Phe139Ser
ENST00000529341.1:c.416T>C
ENSP00000431732.1:p.Phe139Ser
ENST00000524487.5:c.416T>C
ENSP00000435551.2:p.Phe139Ser

About this variant

This variant overlaps 4 transcripts, 1 regulatory feature and is associated with 2 phenotypes.

Variant displays