Linked Data
ClinVar Variation Id:
427434
dbSNP Id:
rs569080122
ExAC:
13:32950817 A / G
gnomAD v2:
13-32950817-A-G
gnomAD v3:
13-32376680-A-G
gnomAD v4:
13-32376680-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32376680A>G , CM000675.2:g.32376680A>G | GRCh38 |
| NC_000013.10:g.32950817A>G , CM000675.1:g.32950817A>G | GRCh37 |
| NC_000013.9:g.31848817A>G | NCBI36 |
| NG_012772.3:g.66201A>G , LRG_293:g.66201A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8643A>G | ENSP00000434898.2:p.Thr2881= | |
| ENST00000528762.2:c.*10A>G | ENSP00000433168.2:n.*10A>G | |
| ENST00000530893.7:c.8274A>G | ENSP00000499438.2:p.Thr2758= | |
| ENST00000665585.2:c.*205A>G | ENSP00000499570.2:n.*205A>G | |
| ENST00000666593.2:c.8643A>G | ENSP00000499256.2:p.Thr2881= | |
| ENST00000700202.2:c.8643A>G | ENSP00000514856.2:p.Thr2881= | |
| ENST00000700202.1:c.1110A>G | ENSP00000514856.1:p.Thr370= | |
| ENST00000700203.1:n.770A>G | ||
| ENST00000380152.8:c.8643A>G MANE Select | ENSP00000369497.3:p.Thr2881= | |
| ENST00000544455.6:c.8643A>G | ENSP00000439902.1:p.Thr2881= | |
| ENST00000614259.2:c.8651A>G | ENSP00000506251.1:n.8651A>G | |
| ENST00000665585.1:c.1521A>G | ||
| ENST00000680887.1:c.8643A>G | ENSP00000505508.1:p.Thr2881= | |
| ENST00000380152.7:c.8643A>G | ENSP00000369497.3:p.Thr2881= | |
| ENST00000528762.1:c.205A>G | ENSP00000433168.1:n.205A>G | |
| ENST00000544455.5:c.8643A>G | ENSP00000439902.1:p.Thr2881= | |
| NM_000059.3:c.8643A>G , LRG_293t1:c.8643A>G | NP_000050.2:p.Thr2881= | |
| XM_011535203.1:c.8643A>G | XP_011533505.1:p.Thr2881= | |
| XM_011535204.1:c.8547A>G | XP_011533506.1:p.Thr2849= | |
| XM_011535205.1:c.8643A>G | XP_011533507.1:p.Thr2881= | |
| NM_000059.4:c.8643A>G MANE Select | NP_000050.3:p.Thr2881= |