Linked Data
ClinVar Variation Id:
51952
ClinVar RCV Id:
RCV000077363
RCV000044775
RCV000131117
RCV000195356
RCV000313209
RCV000515293
RCV000735575
RCV001353570
RCV001843470
RCV001843467
RCV001843468
RCV001843469
dbSNP Id:
rs80358814
ExAC:
13:32914349 G / T
gnomAD v2:
13-32914349-G-T
gnomAD v4:
13-32340212-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32340212G>T , CM000675.2:g.32340212G>T | GRCh38 |
| NC_000013.10:g.32914349G>T , CM000675.1:g.32914349G>T | GRCh37 |
| NC_000013.9:g.31812349G>T | NCBI36 |
| NG_012772.3:g.29733G>T , LRG_293:g.29733G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.5857G>T | ENSP00000434898.2:p.Glu1953Ter | |
| ENST00000528762.2:c.5857G>T | ENSP00000433168.2:p.Glu1953Ter | |
| ENST00000530893.7:c.5488G>T | ENSP00000499438.2:p.Glu1830Ter | |
| ENST00000665585.2:c.5857G>T | ENSP00000499570.2:p.Glu1953Ter | |
| ENST00000666593.2:c.5857G>T | ENSP00000499256.2:p.Glu1953Ter | |
| ENST00000700202.2:c.5857G>T | ENSP00000514856.2:p.Glu1953Ter | |
| ENST00000380152.8:c.5857G>T MANE Select | ENSP00000369497.3:p.Glu1953Ter | |
| ENST00000544455.6:c.5857G>T | ENSP00000439902.1:p.Glu1953Ter | |
| ENST00000614259.2:c.5857G>T | ENSP00000506251.1:p.Glu1953Ter | |
| ENST00000680887.1:c.5857G>T | ENSP00000505508.1:p.Glu1953Ter | |
| ENST00000380152.7:c.5857G>T | ENSP00000369497.3:p.Glu1953Ter | |
| ENST00000544455.5:c.5857G>T | ENSP00000439902.1:p.Glu1953Ter | |
| ENST00000614259.1:n.5857G>T | ||
| NM_000059.3:c.5857G>T , LRG_293t1:c.5857G>T | NP_000050.2:p.Glu1953Ter | |
| XM_011535203.1:c.5857G>T | XP_011533505.1:p.Glu1953Ter | |
| XM_011535204.1:c.5857G>T | XP_011533506.1:p.Glu1953Ter | |
| XM_011535205.1:c.5857G>T | XP_011533507.1:p.Glu1953Ter | |
| NM_000059.4:c.5857G>T MANE Select | NP_000050.3:p.Glu1953Ter |