Linked Data
ClinVar Variation Id:
37719
dbSNP Id:
rs80358387
ExAC:
13:32972695 A / G
gnomAD v2:
13-32972695-A-G
gnomAD v3:
13-32398558-A-G
gnomAD v4:
13-32398558-A-G
COSMIC:
COSM5757639
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398558A>G , CM000675.2:g.32398558A>G | GRCh38 |
| NC_000013.10:g.32972695A>G , CM000675.1:g.32972695A>G | GRCh37 |
| NC_000013.9:g.31870695A>G | NCBI36 |
| NG_012772.3:g.88079A>G , LRG_293:g.88079A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*568A>G | ENSP00000434898.2:n.*568A>G | |
| ENST00000528762.2:c.*1412A>G | ENSP00000433168.2:n.*1412A>G | |
| ENST00000530893.7:c.9676A>G | ENSP00000499438.2:p.Thr3226Ala | |
| ENST00000665585.2:c.*1607A>G | ENSP00000499570.2:n.*1607A>G | |
| ENST00000700202.2:c.9994A>G | ENSP00000514856.2:p.Thr3332Ala | |
| ENST00000700202.1:c.2461A>G | ENSP00000514856.1:p.Thr821Ala | |
| ENST00000700203.1:n.2172A>G | ||
| ENST00000380152.8:c.10045A>G MANE Select | ENSP00000369497.3:p.Thr3349Ala | |
| ENST00000544455.6:c.10045A>G | ENSP00000439902.1:p.Thr3349Ala | |
| ENST00000614259.2:c.10053A>G | ENSP00000506251.1:n.10053A>G | |
| ENST00000680887.1:c.10045A>G | ENSP00000505508.1:p.Thr3349Ala | |
| ENST00000380152.7:c.10045A>G | ENSP00000369497.3:p.Thr3349Ala | |
| ENST00000544455.5:c.10045A>G | ENSP00000439902.1:p.Thr3349Ala | |
| NM_000059.3:c.10045A>G , LRG_293t1:c.10045A>G | NP_000050.2:p.Thr3349Ala | |
| XM_011535203.1:c.10045A>G | XP_011533505.1:p.Thr3349Ala | |
| XM_011535204.1:c.9949A>G | XP_011533506.1:p.Thr3317Ala | |
| NM_000059.4:c.10045A>G MANE Select | NP_000050.3:p.Thr3349Ala |