Linked Data
ClinVar Variation Id:
293260
dbSNP Id:
rs754313121
ExAC:
1:161140835 C / T
gnomAD v2:
1-161140835-C-T
gnomAD v3:
1-161171045-C-T
gnomAD v4:
1-161171045-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161171045C>T , CM000663.2:g.161171045C>T | GRCh38 |
| NC_000001.10:g.161140835C>T , CM000663.1:g.161140835C>T | GRCh37 |
| NC_000001.9:g.159407459C>T | NCBI36 |
| NG_011480.1:g.11480G>A | |
| NG_012877.1:g.9655C>T | |
| NG_012877.2:g.9655C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367999.9:c.1303C>T MANE Select | ENSP00000356978.4:p.Gln435Ter | |
| ENST00000650741.1:c.1098C>T | ENSP00000499106.1:n.1098C>T | |
| ENST00000651150.1:c.*1060C>T | ENSP00000498615.1:n.*1060C>T | |
| ENST00000652100.1:c.366C>T | ||
| ENST00000652103.1:c.1007C>T | ||
| ENST00000652182.1:c.1192C>T | ENSP00000498884.1:p.Gln398Ter | |
| ENST00000652297.1:c.1059C>T | ENSP00000498871.1:n.1059C>T | |
| ENST00000652473.1:c.*845C>T | ENSP00000498477.1:n.*845C>T | |
| ENST00000352210.9:c.1303C>T | ENSP00000343943.5:p.Gln435Ter | |
| ENST00000367999.8:c.1303C>T | ENSP00000356978.4:p.Gln435Ter | |
| ENST00000462866.5:n.300C>T | ||
| ENST00000466452.1:n.648C>T | ||
| ENST00000495483.5:n.1306+276C>T | ||
| ENST00000497522.5:n.623+276C>T | ||
| ENST00000535223.5:c.237+276C>T | ENSP00000443769.1:n.237+276C>T | |
| ENST00000537523.5:c.561C>T | ||
| ENST00000537829.1:c.555C>T | ||
| ENST00000541818.1:n.1057C>T | ||
| ENST00000544598.5:c.427C>T | ENSP00000444216.1:p.Gln143Ter | |
| NM_000309.3:c.1303C>T | NP_000300.1:p.Gln435Ter | |
| NM_001122764.1:c.1303C>T | NP_001116236.1:p.Gln435Ter | |
| XM_005245291.3:c.1248+276C>T | XP_005245348.2:n.1248+276C>T | |
| XM_005245295.3:c.840+276C>T | XP_005245352.2:n.840+276C>T | |
| XM_006711402.2:c.1263+276C>T | XP_006711465.2:n.1263+276C>T | |
| XM_006711403.2:c.1248+276C>T | XP_006711466.2:n.1248+276C>T | |
| XM_006711404.2:c.1318C>T | XP_006711467.1:p.Gln440Ter | |
| XM_006711406.2:c.840+276C>T | XP_006711469.2:n.840+276C>T | |
| XM_011509663.1:c.1377+276C>T | XP_011507965.1:n.1377+276C>T | |
| XM_011509664.1:c.1362+276C>T | XP_011507966.1:n.1362+276C>T | |
| XM_011509665.1:c.1377+276C>T | XP_011507967.1:n.1377+276C>T | |
| XM_011509666.1:c.1266+276C>T | XP_011507968.1:n.1266+276C>T | |
| XM_011509667.1:c.1263+276C>T | XP_011507969.1:n.1263+276C>T | |
| XM_011509668.1:c.1263+276C>T | XP_011507970.1:n.1263+276C>T | |
| XM_011509669.1:c.1263+276C>T | XP_011507971.1:n.1263+276C>T | |
| XM_011509670.1:c.1263+276C>T | XP_011507972.1:n.1263+276C>T | |
| XM_011509671.1:c.1417C>T | XP_011507973.1:p.Gln473Ter | |
| XM_011509672.1:c.1318C>T | XP_011507974.1:p.Gln440Ter | |
| XM_011509673.1:c.1113+276C>T | XP_011507975.1:n.1113+276C>T | |
| XM_011509674.1:c.1086+276C>T | XP_011507976.1:n.1086+276C>T | |
| XM_011509675.1:c.1204C>T | XP_011507977.1:p.Gln402Ter | |
| XM_011509676.1:c.840+276C>T | XP_011507978.1:n.840+276C>T | |
| XM_011509677.1:c.840+276C>T | XP_011507979.1:n.840+276C>T | |
| XM_011509678.1:c.840+276C>T | XP_011507980.1:n.840+276C>T | |
| XM_011509679.1:c.840+276C>T | XP_011507981.1:n.840+276C>T | |
| XM_011509680.1:c.804+276C>T | XP_011507982.1:n.804+276C>T | |
| XM_011509681.1:c.762+276C>T | XP_011507983.1:n.762+276C>T | |
| XM_011509682.1:c.546+276C>T | XP_011507984.1:n.546+276C>T | |
| XR_921850.1:n.1322C>T | ||
| NM_000309.4:c.1303C>T | NP_000300.1:p.Gln435Ter | |
| NM_001122764.3:c.1303C>T MANE Select | NP_001116236.1:p.Gln435Ter | |
| NM_001350128.1:c.1204C>T | NP_001337057.1:p.Gln402Ter | |
| NM_001350129.1:c.895C>T | NP_001337058.1:p.Gln299Ter | |
| NM_001350130.1:c.817C>T | NP_001337059.1:p.Gln273Ter | |
| NM_001350131.1:c.817C>T | NP_001337060.1:p.Gln273Ter | |
| XM_005245291.4:c.1248+276C>T | XP_005245348.2:n.1248+276C>T | |
| XM_006711404.4:c.1432C>T | XP_006711467.2:p.Gln478Ter | |
| XM_011509663.2:c.1377+276C>T | XP_011507965.1:n.1377+276C>T | |
| XM_011509665.2:c.1377+276C>T | XP_011507967.1:n.1377+276C>T | |
| XM_011509666.2:c.1266+276C>T | XP_011507968.1:n.1266+276C>T | |
| XM_011509667.2:c.1263+276C>T | XP_011507969.1:n.1263+276C>T | |
| XM_011509668.2:c.1263+276C>T | XP_011507970.1:n.1263+276C>T | |
| XM_011509670.2:c.1263+276C>T | XP_011507972.1:n.1263+276C>T | |
| XM_011509672.3:c.1318C>T | XP_011507974.1:p.Gln440Ter | |
| XM_011509673.2:c.1113+276C>T | XP_011507975.1:n.1113+276C>T | |
| XM_011509674.2:c.1086+276C>T | XP_011507976.1:n.1086+276C>T | |
| XM_017001559.1:c.1321C>T | XP_016857048.1:p.Gln441Ter | |
| XM_017001560.2:c.1192C>T | XP_016857049.1:p.Gln398Ter | |
| XM_017001562.1:c.840+276C>T | XP_016857051.1:n.840+276C>T | |
| XM_017001563.2:c.762+276C>T | XP_016857052.1:n.762+276C>T | |
| XM_017001564.1:c.762+276C>T | XP_016857053.1:n.762+276C>T | |
| XM_017001566.2:c.895C>T | XP_016857055.1:p.Gln299Ter | |
| XM_017001567.1:c.895C>T | XP_016857056.1:p.Gln299Ter | |
| XM_017001570.1:c.546+276C>T | XP_016857059.1:n.546+276C>T | |
| XM_017001571.1:c.486+276C>T | XP_016857060.1:n.486+276C>T | |
| XM_024447863.1:c.1303C>T | XP_024303631.1:p.Gln435Ter | |
| XM_024447864.1:c.1168C>T | XP_024303632.1:p.Gln390Ter | |
| XM_024447865.1:c.840+276C>T | XP_024303633.1:n.840+276C>T | |
| XM_024447866.1:c.840+276C>T | XP_024303634.1:n.840+276C>T | |
| XM_024447867.1:c.895C>T | XP_024303635.1:p.Gln299Ter | |
| XM_024447874.1:c.895C>T | XP_024303642.1:p.Gln299Ter | |
| XM_024447877.1:c.817C>T | XP_024303645.1:p.Gln273Ter | |
| XR_921850.2:n.1536C>T | ||
| NM_000309.5:c.1303C>T | NP_000300.1:p.Gln435Ter | |
| NM_001350128.2:c.1204C>T | NP_001337057.1:p.Gln402Ter | |
| NM_001350129.2:c.895C>T | NP_001337058.1:p.Gln299Ter | |
| NM_001350130.2:c.817C>T | NP_001337059.1:p.Gln273Ter | |
| NM_001350131.2:c.817C>T | NP_001337060.1:p.Gln273Ter | |
| NM_001365398.1:c.1303C>T | NP_001352327.1:p.Gln435Ter | |
| NM_001365399.1:c.1192C>T | NP_001352328.1:p.Gln398Ter | |
| NM_001365400.1:c.895C>T | NP_001352329.1:p.Gln299Ter | |
| NM_001365401.1:c.817C>T | NP_001352330.1:p.Gln273Ter |