Linked Data
ClinVar Variation Id:
349399
dbSNP Id:
rs141647790
ExAC:
4:663879 A / G
gnomAD v2:
4-663879-A-G
gnomAD v3:
4-670090-A-G
gnomAD v4:
4-670090-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.670090A>G , CM000666.2:g.670090A>G | GRCh38 |
| NC_000004.11:g.663879A>G , CM000666.1:g.663879A>G | GRCh37 |
| NC_000004.10:g.653879A>G | NCBI36 |
| NG_009839.1:g.49517A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496514.6:c.2548A>G MANE Select | ENSP00000420295.1:p.Thr850Ala | |
| ENST00000255622.10:c.2545A>G | ENSP00000255622.6:p.Thr849Ala | |
| ENST00000429163.6:c.1711A>G | ENSP00000406334.2:p.Thr571Ala | |
| ENST00000461490.1:c.325A>G | ||
| ENST00000471824.6:c.477A>G | ENSP00000417852.2:n.477A>G | |
| ENST00000496514.5:c.2548A>G | ENSP00000420295.1:p.Thr850Ala | |
| NM_000283.3:c.2548A>G | NP_000274.2:p.Thr850Ala | |
| NM_001145291.1:c.2545A>G | NP_001138763.1:p.Thr849Ala | |
| NM_001145292.1:c.1711A>G | NP_001138764.1:p.Thr571Ala | |
| XM_011513473.1:c.2702A>G | XP_011511775.1:p.Asn901Ser | |
| XM_011513474.1:c.2767A>G | XP_011511776.1:p.Thr923Ala | |
| XM_011513475.1:c.2483A>G | XP_011511777.1:p.Asn828Ser | |
| XM_011513476.1:c.*42A>G | XP_011511778.1:n.*42A>G | |
| XM_011513477.1:c.1688A>G | XP_011511779.1:p.Asn563Ser | |
| XM_011513478.1:c.1412A>G | XP_011511780.1:p.Asn471Ser | |
| NM_001350154.1:c.1646A>G | NP_001337083.1:p.Asn549Ser | |
| NM_001350155.1:c.1328A>G | NP_001337084.1:p.Asn443Ser | |
| XM_011513473.3:c.2702A>G | XP_011511775.1:p.Asn901Ser | |
| XM_011513474.3:c.2767A>G | XP_011511776.1:p.Thr923Ala | |
| XM_011513475.2:c.2483A>G | XP_011511777.1:p.Asn828Ser | |
| XM_011513476.3:c.*42A>G | XP_011511778.1:n.*42A>G | |
| XM_011513478.2:c.1412A>G | XP_011511780.1:p.Asn471Ser | |
| XM_017008284.1:c.1646A>G | XP_016863773.1:p.Asn549Ser | |
| XM_017008285.1:c.1711A>G | XP_016863774.1:p.Thr571Ala | |
| XM_017008286.1:c.1711A>G | XP_016863775.1:p.Thr571Ala | |
| NM_001350154.2:c.1646A>G | NP_001337083.1:p.Asn549Ser | |
| NM_001350155.2:c.1328A>G | NP_001337084.1:p.Asn443Ser | |
| NM_000283.4:c.2548A>G MANE Select | NP_000274.3:p.Thr850Ala | |
| NM_001145291.2:c.2545A>G | NP_001138763.2:p.Thr849Ala | |
| NM_001145292.2:c.1711A>G | NP_001138764.2:p.Thr571Ala | |
| NM_001350154.3:c.1646A>G | NP_001337083.1:p.Asn549Ser | |
| NM_001350155.3:c.1328A>G | NP_001337084.1:p.Asn443Ser | |
| NM_001379246.1:c.1711A>G | NP_001366175.1:p.Thr571Ala | |
| NM_001379247.1:c.1711A>G | NP_001366176.1:p.Thr571Ala |