Linked Data
ClinVar Variation Id:
43282
dbSNP Id:
rs397516317
ExAC:
11:76915186 C / T
gnomAD v2:
11-76915186-C-T
gnomAD v3:
11-77204141-C-T
gnomAD v4:
11-77204141-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77204141C>T , CM000673.2:g.77204141C>T | GRCh38 |
| NC_000011.9:g.76915186C>T , CM000673.1:g.76915186C>T | GRCh37 |
| NC_000011.8:g.76592834C>T | NCBI36 |
| NG_009086.1:g.80877C>T | |
| NG_009086.2:g.80896C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.5392C>T MANE Select | ENSP00000386331.3:p.Gln1798Ter | |
| ENST00000670577.1:c.3219C>T | ||
| ENST00000409619.6:c.5245C>T | ENSP00000386635.2:p.Gln1749Ter | |
| ENST00000409709.7:c.5392C>T | ENSP00000386331.3:p.Gln1798Ter | |
| ENST00000458169.2:c.2818C>T | ENSP00000417017.2:p.Gln940Ter | |
| ENST00000458637.6:c.5278C>T | ENSP00000392185.2:p.Gln1760Ter | |
| ENST00000481328.7:n.2928C>T | ||
| ENST00000605744.1:n.98C>T | ||
| NM_000260.3:c.5392C>T | NP_000251.3:p.Gln1798Ter | |
| NM_001127180.1:c.5278C>T | NP_001120652.1:p.Gln1760Ter | |
| XM_005274012.2:c.5275C>T | XP_005274069.1:p.Gln1759Ter | |
| XM_006718558.2:c.5383C>T | XP_006718621.1:p.Gln1795Ter | |
| XM_006718559.2:c.5278C>T | XP_006718622.1:p.Gln1760Ter | |
| XM_006718560.2:c.5275C>T | XP_006718623.1:p.Gln1759Ter | |
| XM_006718561.2:c.5278C>T | XP_006718624.1:p.Gln1760Ter | |
| XM_011545044.1:c.5392C>T | XP_011543346.1:p.Gln1798Ter | |
| XM_011545045.1:c.5386C>T | XP_011543347.1:p.Gln1796Ter | |
| XM_011545046.1:c.5359C>T | XP_011543348.1:p.Gln1787Ter | |
| XM_011545047.1:c.5296C>T | XP_011543349.1:p.Gln1766Ter | |
| XM_011545048.1:c.5167C>T | XP_011543350.1:p.Gln1723Ter | |
| XM_011545049.1:c.5155C>T | XP_011543351.1:p.Gln1719Ter | |
| XM_011545050.1:c.5128C>T | XP_011543352.1:p.Gln1710Ter | |
| XM_011545051.1:c.5392C>T | XP_011543353.1:p.Gln1798Ter | |
| XM_011545052.1:c.5392C>T | XP_011543354.1:p.Gln1798Ter | |
| XR_949938.1:n.5712C>T | ||
| XR_949941.1:n.5712C>T | ||
| XR_949942.1:n.5700C>T | ||
| XM_011545044.2:c.5392C>T | XP_011543346.1:p.Gln1798Ter | |
| XM_011545046.2:c.5482C>T | XP_011543348.2:p.Gln1828Ter | |
| XM_011545050.2:c.5128C>T | XP_011543352.1:p.Gln1710Ter | |
| XM_017017778.1:c.5476C>T | XP_016873267.1:p.Gln1826Ter | |
| XM_017017779.1:c.5473C>T | XP_016873268.1:p.Gln1825Ter | |
| XM_017017780.1:c.5482C>T | XP_016873269.1:p.Gln1828Ter | |
| XM_017017781.1:c.5386C>T | XP_016873270.1:p.Gln1796Ter | |
| XM_017017782.1:c.5368C>T | XP_016873271.1:p.Gln1790Ter | |
| XM_017017783.1:c.5365C>T | XP_016873272.1:p.Gln1789Ter | |
| XM_017017784.1:c.5365C>T | XP_016873273.1:p.Gln1789Ter | |
| XM_017017785.1:c.5245C>T | XP_016873274.1:p.Gln1749Ter | |
| XM_017017786.1:c.5482C>T | XP_016873275.1:p.Gln1828Ter | |
| XM_017017788.1:c.5368C>T | XP_016873277.1:p.Gln1790Ter | |
| XR_001747885.1:n.5497C>T | ||
| XR_001747886.1:n.5497C>T | ||
| XR_001747887.1:n.5483C>T | ||
| XR_001747888.1:n.5483C>T | ||
| NM_000260.4:c.5392C>T MANE Select | NP_000251.3:p.Gln1798Ter | |
| NM_001127180.2:c.5278C>T | NP_001120652.1:p.Gln1760Ter | |
| NM_001369365.1:c.5245C>T | NP_001356294.1:p.Gln1749Ter |