Original source

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

Alleles
G/A/T|Ancestral: G|Ambiguity code: D|MAF: 0.02 (A)
Location

Chromosome 16:3249586 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM990837

Most severe consequence
 
Missense variant
Evidence status

Synonyms

This variant has 6 synonyms - Show

HGVS names

This variant has 54 HGVS names - Hide

Variant allele A
16:g.3249586G>A
ENST00000621655.1:c.472C>T
ENSP00000481436.1:p.Pro158Ser
ENST00000538326.5:c.1105C>T
ENSP00000437486.1:p.Pro369Ser
ENST00000536980.5:c.472C>T
ENSP00000444178.1:p.Pro158Ser
ENST00000339854.8:c.565C>T
ENSP00000339639.4:p.Pro189Ser
ENST00000541159.5:c.472C>T
ENSP00000438711.1:p.Pro158Ser
ENST00000570511.5:c.911-2340C>T
ENST00000574583.5:c.278-2340C>T
ENST00000572244.5:c.278-3039C>T
ENST00000537682.5:c.1105C>T
ENSP00000438611.1:p.Pro369Ser
ENST00000219596.5:c.1105C>T
ENSP00000219596.1:p.Pro369Ser
ENST00000576315.5:c.278-2340C>T
ENST00000536379.5:c.472C>T
ENSP00000445079.1:p.Pro158Ser
ENST00000542898.5:c.1198C>T
ENSP00000444615.1:p.Pro400Ser
ENST00000539145.5:c.278-2340C>T
LRG_190:g.12042C>T
LRG_190t1:c.1105C>T
LRG_190p1:p.Pro369Ser

Variant allele T
16:g.3249586G>T
ENST00000621655.1:c.472C>A
ENSP00000481436.1:p.Pro158Thr
ENST00000538326.5:c.1105C>A
ENSP00000437486.1:p.Pro369Thr
ENST00000536980.5:c.472C>A
ENSP00000444178.1:p.Pro158Thr
ENST00000339854.8:c.565C>A
ENSP00000339639.4:p.Pro189Thr
ENST00000541159.5:c.472C>A
ENSP00000438711.1:p.Pro158Thr
ENST00000570511.5:c.911-2340C>A
ENST00000574583.5:c.278-2340C>A
ENST00000572244.5:c.278-3039C>A
ENST00000537682.5:c.1105C>A
ENSP00000438611.1:p.Pro369Thr
ENST00000219596.5:c.1105C>A
ENSP00000219596.1:p.Pro369Thr
ENST00000576315.5:c.278-2340C>A
ENST00000536379.5:c.472C>A
ENSP00000445079.1:p.Pro158Thr
ENST00000542898.5:c.1198C>A
ENSP00000444615.1:p.Pro400Thr
ENST00000539145.5:c.278-2340C>A
LRG_190:g.12042C>A
LRG_190t1:c.1105C>A
LRG_190p1:p.Pro369Thr

Genotyping chips

This variant has assays on 5 chips - Show

About this variant

This variant overlaps 32 transcripts, has 2807 sample genotypes, is associated with 3 phenotypes and is mentioned in 7 citations.

Variant displays