Linked Data
ClinVar Variation Id:
9347
ClinVar RCV Id:
RCV000009941
RCV000077463
RCV000131052
RCV000235644
RCV000210196
RCV000257912
RCV001357808
RCV003460449
dbSNP Id:
rs80359180
gnomAD v4:
13-32380085-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32380085C>T , CM000675.2:g.32380085C>T | GRCh38 |
| NC_000013.10:g.32954222C>T , CM000675.1:g.32954222C>T | GRCh37 |
| NC_000013.9:g.31852222C>T | NCBI36 |
| NG_012772.3:g.69606C>T , LRG_293:g.69606C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9196C>T | ENSP00000434898.2:p.Gln3066Ter | |
| ENST00000528762.2:c.*563C>T | ENSP00000433168.2:n.*563C>T | |
| ENST00000530893.7:c.8827C>T | ENSP00000499438.2:p.Gln2943Ter | |
| ENST00000665585.2:c.*758C>T | ENSP00000499570.2:n.*758C>T | |
| ENST00000666593.2:c.9196C>T | ENSP00000499256.2:p.Gln3066Ter | |
| ENST00000700202.2:c.9145C>T | ENSP00000514856.2:p.Gln3049Ter | |
| ENST00000700202.1:c.1612C>T | ENSP00000514856.1:p.Gln538Ter | |
| ENST00000700203.1:n.1323C>T | ||
| ENST00000380152.8:c.9196C>T MANE Select | ENSP00000369497.3:p.Gln3066Ter | |
| ENST00000544455.6:c.9196C>T | ENSP00000439902.1:p.Gln3066Ter | |
| ENST00000614259.2:c.9204C>T | ENSP00000506251.1:n.9204C>T | |
| ENST00000665585.1:c.2074C>T | ||
| ENST00000666593.1:c.79C>T | ENSP00000499256.1:p.Gln27Ter | |
| ENST00000680887.1:c.9196C>T | ENSP00000505508.1:p.Gln3066Ter | |
| ENST00000380152.7:c.9196C>T | ENSP00000369497.3:p.Gln3066Ter | |
| ENST00000470094.1:c.153C>T | ||
| ENST00000544455.5:c.9196C>T | ENSP00000439902.1:p.Gln3066Ter | |
| NM_000059.3:c.9196C>T , LRG_293t1:c.9196C>T | NP_000050.2:p.Gln3066Ter | |
| XM_011535203.1:c.9196C>T | XP_011533505.1:p.Gln3066Ter | |
| XM_011535204.1:c.9100C>T | XP_011533506.1:p.Gln3034Ter | |
| NM_000059.4:c.9196C>T MANE Select | NP_000050.3:p.Gln3066Ter |