Linked Data
ClinVar Variation Id:
38168
ClinVar RCV Id:
RCV000031751
RCV000034464
RCV000131022
RCV000152885
RCV000167825
RCV000371112
RCV000735613
dbSNP Id:
rs11571747
ExAC:
13:32945172 A / C
gnomAD v2:
13-32945172-A-C
gnomAD v3:
13-32371035-A-C
gnomAD v4:
13-32371035-A-C
PubMed:
PMID:1990134
PMID:10699917
PMID:10717622
PMID:10923033
PMID:12474142
PMID:15026808
PMID:16489001
PMID:17341484
PMID:17899372
PMID:18312450
PMID:18559594
PMID:18607349
PMID:18824701
PMID:19043619
PMID:20104584
PMID:21520273
PMID:21702907
PMID:21952622
PMID:21990134
PMID:22703879
PMID:23108138
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32371035A>C , CM000675.2:g.32371035A>C | GRCh38 |
| NC_000013.10:g.32945172A>C , CM000675.1:g.32945172A>C | GRCh37 |
| NC_000013.9:g.31843172A>C | NCBI36 |
| NG_012772.3:g.60556A>C , LRG_293:g.60556A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8567A>C | ENSP00000434898.2:p.Glu2856Ala | |
| ENST00000528762.2:c.8567A>C | ENSP00000433168.2:p.Glu2856Ala | |
| ENST00000530893.7:c.8198A>C | ENSP00000499438.2:p.Glu2733Ala | |
| ENST00000665585.2:c.8567A>C | ENSP00000499570.2:p.Glu2856Ala | |
| ENST00000666593.2:c.8567A>C | ENSP00000499256.2:p.Glu2856Ala | |
| ENST00000700202.2:c.8567A>C | ENSP00000514856.2:p.Glu2856Ala | |
| ENST00000700202.1:c.1034A>C | ENSP00000514856.1:p.Glu345Ala | |
| ENST00000380152.8:c.8567A>C MANE Select | ENSP00000369497.3:p.Glu2856Ala | |
| ENST00000544455.6:c.8567A>C | ENSP00000439902.1:p.Glu2856Ala | |
| ENST00000614259.2:c.8575A>C | ENSP00000506251.1:n.8575A>C | |
| ENST00000665585.1:c.1132A>C | ||
| ENST00000680887.1:c.8567A>C | ENSP00000505508.1:p.Glu2856Ala | |
| ENST00000380152.7:c.8567A>C | ENSP00000369497.3:p.Glu2856Ala | |
| ENST00000528762.1:c.65A>C | ENSP00000433168.1:p.Glu22Ala | |
| ENST00000544455.5:c.8567A>C | ENSP00000439902.1:p.Glu2856Ala | |
| NM_000059.3:c.8567A>C , LRG_293t1:c.8567A>C | NP_000050.2:p.Glu2856Ala | |
| XM_011535203.1:c.8567A>C | XP_011533505.1:p.Glu2856Ala | |
| XM_011535204.1:c.8471A>C | XP_011533506.1:p.Glu2824Ala | |
| XM_011535205.1:c.8567A>C | XP_011533507.1:p.Glu2856Ala | |
| NM_000059.4:c.8567A>C MANE Select | NP_000050.3:p.Glu2856Ala |