Linked Data
ClinVar Variation Id:
51035
dbSNP Id:
rs28897761
gnomAD v3:
13-32398537-G-T
gnomAD v4:
13-32398537-G-T
PubMed:
PMID:10570174
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398537G>T , CM000675.2:g.32398537G>T | GRCh38 |
| NC_000013.10:g.32972674G>T , CM000675.1:g.32972674G>T | GRCh37 |
| NC_000013.9:g.31870674G>T | NCBI36 |
| NG_012772.3:g.88058G>T , LRG_293:g.88058G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*547G>T | ENSP00000434898.2:n.*547G>T | |
| ENST00000528762.2:c.*1391G>T | ENSP00000433168.2:n.*1391G>T | |
| ENST00000530893.7:c.9655G>T | ENSP00000499438.2:p.Glu3219Ter | |
| ENST00000665585.2:c.*1586G>T | ENSP00000499570.2:n.*1586G>T | |
| ENST00000700202.2:c.9973G>T | ENSP00000514856.2:p.Glu3325Ter | |
| ENST00000700202.1:c.2440G>T | ENSP00000514856.1:p.Glu814Ter | |
| ENST00000700203.1:n.2151G>T | ||
| ENST00000380152.8:c.10024G>T MANE Select | ENSP00000369497.3:p.Glu3342Ter | |
| ENST00000544455.6:c.10024G>T | ENSP00000439902.1:p.Glu3342Ter | |
| ENST00000614259.2:c.10032G>T | ENSP00000506251.1:n.10032G>T | |
| ENST00000680887.1:c.10024G>T | ENSP00000505508.1:p.Glu3342Ter | |
| ENST00000380152.7:c.10024G>T | ENSP00000369497.3:p.Glu3342Ter | |
| ENST00000544455.5:c.10024G>T | ENSP00000439902.1:p.Glu3342Ter | |
| NM_000059.3:c.10024G>T , LRG_293t1:c.10024G>T | NP_000050.2:p.Glu3342Ter | |
| XM_011535203.1:c.10024G>T | XP_011533505.1:p.Glu3342Ter | |
| XM_011535204.1:c.9928G>T | XP_011533506.1:p.Glu3310Ter | |
| NM_000059.4:c.10024G>T MANE Select | NP_000050.3:p.Glu3342Ter |