Original source

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

Alleles
G/C/T|Ancestral: G|Ambiguity code: B
Location

Chromosome 14:20475120 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM890083 ; PhenCode NPbase_D0064:g.6711G>C (G/C)

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 4318, 2010_April_001_034_NP_164050_0002

HGVS names

This variant has 24 HGVS names - Hide

Variant allele T
14:g.20475120G>T
ENST00000557229.5:n.949G>T
ENST00000553591.1:c.637G>T
ENSP00000452421.1:p.Ala213Ser
ENST00000554678.1:n.187-26C>A
ENST00000556754.1:n.1737G>T
ENST00000361505.9:c.520G>T
ENSP00000354532.5:p.Ala174Ser
ENST00000554056.5:n.828G>T
LRG_91:g.10738G>T
LRG_91t1:c.520G>T
LRG_91p1:p.Ala174Ser

Variant allele C
14:g.20475120G>C
ENST00000557229.5:n.949G>C
ENST00000553591.1:c.637G>C
ENSP00000452421.1:p.Ala213Pro
ENST00000554678.1:n.187-26C>G
ENST00000556754.1:n.1737G>C
ENST00000361505.9:c.520G>C
ENSP00000354532.5:p.Ala174Pro
ENST00000554056.5:n.828G>C
LRG_91:g.10738G>C
LRG_91t1:c.520G>C
LRG_91p1:p.Ala174Pro

About this variant

This variant overlaps 20 transcripts and is associated with 2 phenotypes.

Variant displays