Linked Data
ClinVar Variation Id:
97009
ClinVar RCV Id:
RCV000083260
dbSNP Id:
rs431905513
PubMed:
PMID:23936043
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.115040947T>A , CM000671.2:g.115040947T>A | GRCh38 |
| NC_000009.11:g.117803226T>A , CM000671.1:g.117803226T>A | GRCh37 |
| NC_000009.10:g.116843047T>A | NCBI36 |
| NG_029637.1:g.82311A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000476680.2:c.578A>T | ||
| ENST00000537320.6:c.3475A>T | ENSP00000443478.1:p.Thr1159Ser | |
| ENST00000542877.6:c.4297A>T | ENSP00000442242.1:p.Thr1433Ser | |
| ENST00000705190.1:c.2329A>T | ENSP00000516083.1:p.Thr777Ser | |
| ENST00000705191.1:c.985A>T | ENSP00000516084.1:p.Thr329Ser | |
| ENST00000705192.1:c.4344A>T | ||
| ENST00000350763.9:c.5386A>T MANE Select | ENSP00000265131.4:p.Thr1796Ser | |
| ENST00000341037.8:c.4840A>T | ENSP00000339553.4:p.Thr1614Ser | |
| ENST00000350763.8:c.5386A>T | ENSP00000265131.4:p.Thr1796Ser | |
| ENST00000423613.6:c.4567A>T | ENSP00000411406.2:p.Thr1523Ser | |
| ENST00000476680.1:n.513A>T | ||
| ENST00000498724.5:n.300A>T | ||
| ENST00000535648.5:c.4297A>T | ENSP00000438152.2:p.Thr1433Ser | |
| ENST00000537320.5:c.3475A>T | ENSP00000443478.1:p.Thr1159Ser | |
| ENST00000542877.5:c.4297A>T | ENSP00000442242.1:p.Thr1433Ser | |
| ENST00000544972.1:c.1073A>T | ||
| NM_002160.3:c.5386A>T | NP_002151.2:p.Thr1796Ser | |
| XM_005251972.2:c.5113A>T | XP_005252029.1:p.Thr1705Ser | |
| XM_005251973.2:c.4294A>T | XP_005252030.1:p.Thr1432Ser | |
| XM_005251974.2:c.3748A>T | XP_005252031.1:p.Thr1250Ser | |
| XM_005251975.2:c.3475A>T | XP_005252032.1:p.Thr1159Ser | |
| XM_006717096.2:c.5662A>T | XP_006717159.1:p.Thr1888Ser | |
| XM_006717097.2:c.5113A>T | XP_006717160.1:p.Thr1705Ser | |
| XM_006717098.2:c.4840A>T | XP_006717161.1:p.Thr1614Ser | |
| XM_006717100.2:c.4567A>T | XP_006717163.1:p.Thr1523Ser | |
| XM_006717101.2:c.3748A>T | XP_006717164.1:p.Thr1250Ser | |
| XM_011518622.1:c.5389A>T | XP_011516924.1:p.Thr1797Ser | |
| XM_011518623.1:c.5389A>T | XP_011516925.1:p.Thr1797Ser | |
| XM_011518624.1:c.4843A>T | XP_011516926.1:p.Thr1615Ser | |
| XM_011518625.1:c.4840A>T | XP_011516927.1:p.Thr1614Ser | |
| XM_011518626.1:c.4570A>T | XP_011516928.1:p.Thr1524Ser | |
| XM_011518627.1:c.4297A>T | XP_011516929.1:p.Thr1433Ser | |
| XM_011518628.1:c.4021A>T | XP_011516930.1:p.Thr1341Ser | |
| XM_011518629.1:c.4021A>T | XP_011516931.1:p.Thr1341Ser | |
| XM_005251972.4:c.5113A>T | XP_005252029.1:p.Thr1705Ser | |
| XM_005251973.4:c.4294A>T | XP_005252030.1:p.Thr1432Ser | |
| XM_005251974.4:c.3748A>T | XP_005252031.1:p.Thr1250Ser | |
| XM_005251975.4:c.3475A>T | XP_005252032.1:p.Thr1159Ser | |
| XM_006717096.4:c.5662A>T | XP_006717159.1:p.Thr1888Ser | |
| XM_006717097.4:c.5113A>T | XP_006717160.1:p.Thr1705Ser | |
| XM_006717098.4:c.4840A>T | XP_006717161.1:p.Thr1614Ser | |
| XM_006717101.4:c.3748A>T | XP_006717164.1:p.Thr1250Ser | |
| XM_011518625.3:c.4840A>T | XP_011516927.1:p.Thr1614Ser | |
| XM_011518626.3:c.4570A>T | XP_011516928.1:p.Thr1524Ser | |
| XM_011518628.3:c.4021A>T | XP_011516930.1:p.Thr1341Ser | |
| XM_011518629.3:c.4021A>T | XP_011516931.1:p.Thr1341Ser | |
| XM_017014678.2:c.5935A>T | XP_016870167.1:p.Thr1979Ser | |
| XM_017014679.2:c.5662A>T | XP_016870168.1:p.Thr1888Ser | |
| XM_017014680.2:c.5659A>T | XP_016870169.1:p.Thr1887Ser | |
| XM_017014681.2:c.4843A>T | XP_016870170.1:p.Thr1615Ser | |
| XM_024447530.1:c.5935A>T | XP_024303298.1:p.Thr1979Ser | |
| NM_002160.4:c.5386A>T MANE Select | NP_002151.2:p.Thr1796Ser |