Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
C/A/T | Ancestral: C | Ambiguity code: H
Location

Chromosome 11:57614474 (forward strand) | View in location tab

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 5 synonyms - click the plus to show

This variant has 38 HGVS names - click the plus to show

Variant allele A
11:g.57614474C>A
ENST00000278407.8:c.1396C>A
ENSP00000278407.4:p.Arg466Ser
ENST00000528996.1:c.*336C>A
ENST00000531797.5:c.*421C>A
ENST00000403558.1:c.1525C>A
ENSP00000384420.1:p.Arg509Ser
ENST00000619430.1:c.*125C>A
ENST00000530113.1:n.853C>A
ENST00000378324.6:c.1240C>A
ENSP00000367575.2:p.Arg414Ser
ENST00000340687.10:c.1285C>A
ENSP00000341861.6:p.Arg429Ser
ENST00000531133.5:c.*765C>A
ENST00000378323.8:c.1411C>A
ENSP00000367574.4:p.Arg471Ser
LRG_105:g.21921C>A
LRG_105t1:c.1396C>A
LRG_105p1:p.Arg466Ser

Variant allele T
11:g.57614474C>T
ENST00000278407.8:c.1396C>T
ENSP00000278407.4:p.Arg466Cys
ENST00000528996.1:c.*336C>T
ENST00000531797.5:c.*421C>T
ENST00000403558.1:c.1525C>T
ENSP00000384420.1:p.Arg509Cys
ENST00000619430.1:c.*125C>T
ENST00000530113.1:n.853C>T
ENST00000378324.6:c.1240C>T
ENSP00000367575.2:p.Arg414Cys
ENST00000340687.10:c.1285C>T
ENSP00000341861.6:p.Arg429Cys
ENST00000531133.5:c.*765C>T
ENST00000378323.8:c.1411C>T
ENSP00000367574.4:p.Arg471Cys
LRG_105:g.21921C>T
LRG_105t1:c.1396C>T
LRG_105p1:p.Arg466Cys

About this variant

This variant overlaps 22 transcripts, 1 regulatory feature, is associated with 7 phenotypes and is mentioned in 1 citation.

Variant displays