Linked Data
ClinVar Variation Id:
432319
dbSNP Id:
rs753974933
ExAC:
16:81902841 A / G
gnomAD v2:
16-81902841-A-G
gnomAD v3:
16-81869236-A-G
gnomAD v4:
16-81869236-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81869236A>G , CM000678.2:g.81869236A>G | GRCh38 |
| NC_000016.9:g.81902841A>G , CM000678.1:g.81902841A>G | GRCh37 |
| NC_000016.8:g.80460342A>G | NCBI36 |
| NG_032019.2:g.135140A>G , LRG_376:g.135140A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563193.2:c.502A>G | ENSP00000455533.2:p.Thr168Ala | |
| ENST00000697561.1:c.502A>G | ENSP00000513337.1:p.Thr168Ala | |
| ENST00000697562.1:c.502A>G | ENSP00000513338.1:p.Thr168Ala | |
| ENST00000697563.1:c.*63A>G | ENSP00000513339.1:n.*63A>G | |
| ENST00000697564.1:c.502A>G | ENSP00000513340.1:p.Thr168Ala | |
| ENST00000697565.1:n.442A>G | ||
| ENST00000697581.1:c.*496A>G | ENSP00000513346.1:n.*496A>G | |
| ENST00000697582.1:c.502A>G | ENSP00000513347.1:p.Thr168Ala | |
| ENST00000697583.1:c.301A>G | ENSP00000513349.1:p.Thr101Ala | |
| ENST00000697584.1:c.301A>G | ENSP00000513350.1:p.Thr101Ala | |
| ENST00000697585.1:c.301A>G | ENSP00000513351.1:p.Thr101Ala | |
| ENST00000697586.1:c.301A>G | ENSP00000513352.1:p.Thr101Ala | |
| ENST00000697587.1:c.301A>G | ENSP00000513353.1:p.Thr101Ala | |
| ENST00000564138.6:c.502A>G MANE Select | ENSP00000482457.1:p.Thr168Ala | |
| ENST00000359376.7:c.502A>G | ENSP00000352336.4:p.Thr168Ala | |
| ENST00000564138.5:c.502A>G | ENSP00000482457.1:p.Thr168Ala | |
| ENST00000567980.5:n.746A>G | ||
| ENST00000569523.1:n.534A>G | ||
| ENST00000569929.5:n.538A>G | ||
| NM_002661.4:c.502A>G | NP_002652.2:p.Thr168Ala | |
| XM_011523108.1:c.616A>G | XP_011521410.1:p.Thr206Ala | |
| NM_002661.5:c.502A>G MANE Select | NP_002652.2:p.Thr168Ala |