Linked Data
ClinVar Variation Id:
2755894
ClinVar RCV Id:
RCV003597024
MyVariant Identifiers:
chr10:g.95552956T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.93793199T>G , CM000672.2:g.93793199T>G | GRCh38 |
| NC_000010.10:g.95552956T>G , CM000672.1:g.95552956T>G | GRCh37 |
| NC_000010.9:g.95542946T>G | NCBI36 |
| NG_011832.1:g.40391T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371418.9:c.687T>G MANE Select | ENSP00000360472.4:p.Ser229= | |
| ENST00000485458.3:n.4663T>G | ||
| ENST00000635953.1:c.687T>G | ENSP00000490058.1:p.Ser229= | |
| ENST00000636155.1:c.687T>G | ENSP00000490355.1:p.Ser229= | |
| ENST00000636232.1:c.*473T>G | ENSP00000490325.1:n.*473T>G | |
| ENST00000636754.1:c.*529T>G | ENSP00000489781.1:n.*529T>G | |
| ENST00000636946.1:c.*856T>G | ENSP00000490654.1:n.*856T>G | |
| ENST00000637037.1:c.*277T>G | ENSP00000490860.1:n.*277T>G | |
| ENST00000637347.1:n.548T>G | ||
| ENST00000637611.1:c.*243T>G | ENSP00000489682.1:n.*243T>G | |
| ENST00000637689.1:c.-685T>G | ENSP00000490496.1:n.-685T>G | |
| ENST00000637925.1:c.*282T>G | ENSP00000489763.1:n.*282T>G | |
| ENST00000638049.1:c.*445T>G | ENSP00000490597.1:n.*445T>G | |
| ENST00000676175.1:n.2426T>G | ||
| ENST00000371413.4:c.687T>G | ENSP00000360467.3:p.Ser229= | |
| ENST00000371418.8:c.687T>G | ENSP00000360472.4:p.Ser229= | |
| ENST00000626307.1:n.4602T>G | ||
| ENST00000626946.1:n.357T>G | ||
| ENST00000627420.2:c.*396T>G | ENSP00000487116.1:n.*396T>G | |
| ENST00000629035.2:c.615T>G | ENSP00000486908.1:p.Ser205= | |
| ENST00000630047.2:c.543T>G | ENSP00000485917.1:p.Ser181= | |
| ENST00000630412.1:n.475T>G | ||
| ENST00000630487.2:c.*477T>G | ENSP00000486859.1:n.*477T>G | |
| NM_001308275.1:c.687T>G | NP_001295204.1:p.Ser229= | |
| NM_001308276.1:c.543T>G | NP_001295205.1:p.Ser181= | |
| NM_005097.2:c.687T>G | NP_005088.1:p.Ser229= | |
| NM_005097.3:c.687T>G | NP_005088.1:p.Ser229= | |
| NR_131777.1:n.951T>G | ||
| XM_017016911.2:c.687T>G | XP_016872400.1:p.Ser229= | |
| XM_017016912.2:c.543T>G | XP_016872401.1:p.Ser181= | |
| NM_005097.4:c.687T>G MANE Select | NP_005088.1:p.Ser229= | |
| NM_001308275.2:c.687T>G | NP_001295204.1:p.Ser229= | |
| NM_001308276.2:c.543T>G | NP_001295205.1:p.Ser181= | |
| NR_131777.2:n.824T>G |