Linked Data
ClinVar Variation Id:
874256
ClinVar RCV Id:
RCV001097057
dbSNP Id:
rs190919484
ExAC:
1:161137795 C / T
gnomAD v2:
1-161137795-C-T
gnomAD v3:
1-161168005-C-T
gnomAD v4:
1-161168005-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161168005C>T , CM000663.2:g.161168005C>T | GRCh38 |
| NC_000001.10:g.161137795C>T , CM000663.1:g.161137795C>T | GRCh37 |
| NC_000001.9:g.159404419C>T | NCBI36 |
| NG_012877.1:g.6615C>T | |
| NG_012877.2:g.6615C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367999.9:c.349C>T MANE Select | ENSP00000356978.4:p.Arg117Cys | |
| ENST00000650741.1:c.125C>T | ENSP00000499106.1:p.Pro42Leu | |
| ENST00000651150.1:c.*119C>T | ENSP00000498615.1:n.*119C>T | |
| ENST00000652103.1:c.176-427C>T | ||
| ENST00000652182.1:c.349C>T | ENSP00000498884.1:p.Arg117Cys | |
| ENST00000652297.1:c.118C>T | ENSP00000498871.1:p.Arg40Cys | |
| ENST00000652473.1:c.349C>T | ENSP00000498477.1:p.Arg117Cys | |
| ENST00000652729.1:c.349C>T | ENSP00000498609.1:p.Arg117Cys | |
| ENST00000352210.9:c.349C>T | ENSP00000343943.5:p.Arg117Cys | |
| ENST00000367999.8:c.349C>T | ENSP00000356978.4:p.Arg117Cys | |
| ENST00000462866.5:n.95+1071C>T | ||
| ENST00000468968.6:n.782C>T | ||
| ENST00000470607.5:n.591C>T | ||
| ENST00000479246.5:n.727C>T | ||
| ENST00000490768.1:n.655C>T | ||
| ENST00000495483.5:n.511-408C>T | ||
| ENST00000497522.5:n.473+771C>T | ||
| ENST00000535223.5:c.87+1071C>T | ENSP00000443769.1:n.87+1071C>T | |
| ENST00000539753.5:c.222+771C>T | ENSP00000439613.1:n.222+771C>T | |
| ENST00000544598.5:c.222+771C>T | ENSP00000444216.1:n.222+771C>T | |
| NM_000309.3:c.349C>T | NP_000300.1:p.Arg117Cys | |
| NM_001122764.1:c.349C>T | NP_001116236.1:p.Arg117Cys | |
| XM_005245291.3:c.349C>T | XP_005245348.2:p.Arg117Cys | |
| XM_005245295.3:c.-79C>T | XP_005245352.2:n.-79C>T | |
| XM_006711402.2:c.364C>T | XP_006711465.2:p.Arg122Cys | |
| XM_006711403.2:c.349C>T | XP_006711466.2:p.Arg117Cys | |
| XM_006711404.2:c.364C>T | XP_006711467.1:p.Arg122Cys | |
| XM_006711406.2:c.-79C>T | XP_006711469.2:n.-79C>T | |
| XM_011509663.1:c.478C>T | XP_011507965.1:p.Arg160Cys | |
| XM_011509664.1:c.463C>T | XP_011507966.1:p.Arg155Cys | |
| XM_011509665.1:c.478C>T | XP_011507967.1:p.Arg160Cys | |
| XM_011509666.1:c.478C>T | XP_011507968.1:p.Arg160Cys | |
| XM_011509667.1:c.364C>T | XP_011507969.1:p.Arg122Cys | |
| XM_011509668.1:c.364C>T | XP_011507970.1:p.Arg122Cys | |
| XM_011509669.1:c.364C>T | XP_011507971.1:p.Arg122Cys | |
| XM_011509670.1:c.468-408C>T | XP_011507972.1:n.468-408C>T | |
| XM_011509671.1:c.463C>T | XP_011507973.1:p.Arg155Cys | |
| XM_011509672.1:c.468-408C>T | XP_011507974.1:n.468-408C>T | |
| XM_011509673.1:c.337-427C>T | XP_011507975.1:n.337-427C>T | |
| XM_011509674.1:c.478C>T | XP_011507976.1:p.Arg160Cys | |
| XM_011509675.1:c.354-408C>T | XP_011507977.1:n.354-408C>T | |
| XM_011509676.1:c.-79C>T | XP_011507978.1:n.-79C>T | |
| XM_011509677.1:c.-79C>T | XP_011507979.1:n.-79C>T | |
| XM_011509678.1:c.-79C>T | XP_011507980.1:n.-79C>T | |
| XM_011509679.1:c.-79C>T | XP_011507981.1:n.-79C>T | |
| XM_011509680.1:c.27+54C>T | XP_011507982.1:n.27+54C>T | |
| XM_011509681.1:c.-34-408C>T | XP_011507983.1:n.-34-408C>T | |
| XM_011509682.1:c.-209C>T | XP_011507984.1:n.-209C>T | |
| XR_921850.1:n.487C>T | ||
| NM_000309.4:c.349C>T | NP_000300.1:p.Arg117Cys | |
| NM_001122764.3:c.349C>T MANE Select | NP_001116236.1:p.Arg117Cys | |
| NM_001350128.1:c.354-408C>T | NP_001337057.1:n.354-408C>T | |
| NM_001350129.1:c.-79C>T | NP_001337058.1:n.-79C>T | |
| NM_001350130.1:c.-138C>T | NP_001337059.1:n.-138C>T | |
| NM_001350131.1:c.-34-408C>T | NP_001337060.1:n.-34-408C>T | |
| XM_005245291.4:c.349C>T | XP_005245348.2:p.Arg117Cys | |
| XM_006711404.4:c.478C>T | XP_006711467.2:p.Arg160Cys | |
| XM_011509663.2:c.478C>T | XP_011507965.1:p.Arg160Cys | |
| XM_011509665.2:c.478C>T | XP_011507967.1:p.Arg160Cys | |
| XM_011509666.2:c.478C>T | XP_011507968.1:p.Arg160Cys | |
| XM_011509667.2:c.364C>T | XP_011507969.1:p.Arg122Cys | |
| XM_011509668.2:c.364C>T | XP_011507970.1:p.Arg122Cys | |
| XM_011509670.2:c.468-408C>T | XP_011507972.1:n.468-408C>T | |
| XM_011509672.3:c.468-408C>T | XP_011507974.1:n.468-408C>T | |
| XM_011509673.2:c.337-427C>T | XP_011507975.1:n.337-427C>T | |
| XM_011509674.2:c.478C>T | XP_011507976.1:p.Arg160Cys | |
| XM_017001559.1:c.478C>T | XP_016857048.1:p.Arg160Cys | |
| XM_017001560.2:c.349C>T | XP_016857049.1:p.Arg117Cys | |
| XM_017001562.1:c.-79C>T | XP_016857051.1:n.-79C>T | |
| XM_017001563.2:c.-138C>T | XP_016857052.1:n.-138C>T | |
| XM_017001564.1:c.-35+54C>T | XP_016857053.1:n.-35+54C>T | |
| XM_017001566.2:c.-79C>T | XP_016857055.1:n.-79C>T | |
| XM_017001567.1:c.-79C>T | XP_016857056.1:n.-79C>T | |
| XM_017001570.1:c.-87+771C>T | XP_016857059.1:n.-87+771C>T | |
| XM_017001571.1:c.336+771C>T | XP_016857060.1:n.336+771C>T | |
| XM_024447863.1:c.349C>T | XP_024303631.1:p.Arg117Cys | |
| XM_024447864.1:c.337-427C>T | XP_024303632.1:n.337-427C>T | |
| XM_024447865.1:c.-79C>T | XP_024303633.1:n.-79C>T | |
| XM_024447866.1:c.-79C>T | XP_024303634.1:n.-79C>T | |
| XM_024447867.1:c.-79C>T | XP_024303635.1:n.-79C>T | |
| XM_024447874.1:c.-79C>T | XP_024303642.1:n.-79C>T | |
| XM_024447877.1:c.-138C>T | XP_024303645.1:n.-138C>T | |
| XR_921850.2:n.701C>T | ||
| NM_000309.5:c.349C>T | NP_000300.1:p.Arg117Cys | |
| NM_001350128.2:c.354-408C>T | NP_001337057.1:n.354-408C>T | |
| NM_001350129.2:c.-79C>T | NP_001337058.1:n.-79C>T | |
| NM_001350130.2:c.-138C>T | NP_001337059.1:n.-138C>T | |
| NM_001350131.2:c.-34-408C>T | NP_001337060.1:n.-34-408C>T | |
| NM_001365398.1:c.349C>T | NP_001352327.1:p.Arg117Cys | |
| NM_001365399.1:c.349C>T | NP_001352328.1:p.Arg117Cys | |
| NM_001365400.1:c.-79C>T | NP_001352329.1:n.-79C>T | |
| NM_001365401.1:c.-138C>T | NP_001352330.1:n.-138C>T |