Linked Data
ClinVar Variation Id:
1770793
dbSNP Id:
rs772432857
ExAC:
13:32972678 A / T
gnomAD v2:
13-32972678-A-T
gnomAD v3:
13-32398541-A-T
gnomAD v4:
13-32398541-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398541A>T , CM000675.2:g.32398541A>T | GRCh38 |
| NC_000013.10:g.32972678A>T , CM000675.1:g.32972678A>T | GRCh37 |
| NC_000013.9:g.31870678A>T | NCBI36 |
| NG_012772.3:g.88062A>T , LRG_293:g.88062A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*551A>T | ENSP00000434898.2:n.*551A>T | |
| ENST00000528762.2:c.*1395A>T | ENSP00000433168.2:n.*1395A>T | |
| ENST00000530893.7:c.9659A>T | ENSP00000499438.2:p.Glu3220Val | |
| ENST00000665585.2:c.*1590A>T | ENSP00000499570.2:n.*1590A>T | |
| ENST00000700202.2:c.9977A>T | ENSP00000514856.2:p.Glu3326Val | |
| ENST00000700202.1:c.2444A>T | ENSP00000514856.1:p.Glu815Val | |
| ENST00000700203.1:n.2155A>T | ||
| ENST00000380152.8:c.10028A>T MANE Select | ENSP00000369497.3:p.Glu3343Val | |
| ENST00000544455.6:c.10028A>T | ENSP00000439902.1:p.Glu3343Val | |
| ENST00000614259.2:c.10036A>T | ENSP00000506251.1:n.10036A>T | |
| ENST00000680887.1:c.10028A>T | ENSP00000505508.1:p.Glu3343Val | |
| ENST00000380152.7:c.10028A>T | ENSP00000369497.3:p.Glu3343Val | |
| ENST00000544455.5:c.10028A>T | ENSP00000439902.1:p.Glu3343Val | |
| NM_000059.3:c.10028A>T , LRG_293t1:c.10028A>T | NP_000050.2:p.Glu3343Val | |
| XM_011535203.1:c.10028A>T | XP_011533505.1:p.Glu3343Val | |
| XM_011535204.1:c.9932A>T | XP_011533506.1:p.Glu3311Val | |
| NM_000059.4:c.10028A>T MANE Select | NP_000050.3:p.Glu3343Val |