Linked Data
ClinVar Variation Id:
8694
dbSNP Id:
rs121918325
ExAC:
1:161138252 C / T
gnomAD v2:
1-161138252-C-T
gnomAD v4:
1-161168462-C-T
PubMed:
PMID:8817334
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161168462C>T , CM000663.2:g.161168462C>T | GRCh38 |
| NC_000001.10:g.161138252C>T , CM000663.1:g.161138252C>T | GRCh37 |
| NC_000001.9:g.159404876C>T | NCBI36 |
| NG_012877.1:g.7072C>T | |
| NG_012877.2:g.7072C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367999.9:c.502C>T MANE Select | ENSP00000356978.4:p.Arg168Cys | |
| ENST00000650741.1:c.297C>T | ENSP00000499106.1:n.297C>T | |
| ENST00000651150.1:c.*259C>T | ENSP00000498615.1:n.*259C>T | |
| ENST00000652103.1:c.206C>T | ||
| ENST00000652182.1:c.502C>T | ENSP00000498884.1:p.Arg168Cys | |
| ENST00000652297.1:c.258C>T | ENSP00000498871.1:p.Ala86= | |
| ENST00000652473.1:c.*44C>T | ENSP00000498477.1:n.*44C>T | |
| ENST00000352210.9:c.502C>T | ENSP00000343943.5:p.Arg168Cys | |
| ENST00000367999.8:c.502C>T | ENSP00000356978.4:p.Arg168Cys | |
| ENST00000460611.1:n.68C>T | ||
| ENST00000462866.5:n.95+1528C>T | ||
| ENST00000462977.1:n.203C>T | ||
| ENST00000470607.5:n.713+335C>T | ||
| ENST00000479246.5:n.880C>T | ||
| ENST00000494216.1:n.64C>T | ||
| ENST00000495483.5:n.560C>T | ||
| ENST00000497522.5:n.473+1228C>T | ||
| ENST00000535223.5:c.87+1528C>T | ENSP00000443769.1:n.87+1528C>T | |
| ENST00000539753.5:c.223-1198C>T | ENSP00000439613.1:n.223-1198C>T | |
| ENST00000544598.5:c.222+1228C>T | ENSP00000444216.1:n.222+1228C>T | |
| NM_000309.3:c.502C>T | NP_000300.1:p.Arg168Cys | |
| NM_001122764.1:c.502C>T | NP_001116236.1:p.Arg168Cys | |
| XM_005245291.3:c.502C>T | XP_005245348.2:p.Arg168Cys | |
| XM_005245295.3:c.94C>T | XP_005245352.2:p.Arg32Cys | |
| XM_006711402.2:c.517C>T | XP_006711465.2:p.Arg173Cys | |
| XM_006711403.2:c.502C>T | XP_006711466.2:p.Arg168Cys | |
| XM_006711404.2:c.517C>T | XP_006711467.1:p.Arg173Cys | |
| XM_006711406.2:c.94C>T | XP_006711469.2:p.Arg32Cys | |
| XM_011509663.1:c.631C>T | XP_011507965.1:p.Arg211Cys | |
| XM_011509664.1:c.616C>T | XP_011507966.1:p.Arg206Cys | |
| XM_011509665.1:c.631C>T | XP_011507967.1:p.Arg211Cys | |
| XM_011509666.1:c.631C>T | XP_011507968.1:p.Arg211Cys | |
| XM_011509667.1:c.517C>T | XP_011507969.1:p.Arg173Cys | |
| XM_011509668.1:c.517C>T | XP_011507970.1:p.Arg173Cys | |
| XM_011509669.1:c.517C>T | XP_011507971.1:p.Arg173Cys | |
| XM_011509670.1:c.517C>T | XP_011507972.1:p.Arg173Cys | |
| XM_011509671.1:c.616C>T | XP_011507973.1:p.Arg206Cys | |
| XM_011509672.1:c.517C>T | XP_011507974.1:p.Arg173Cys | |
| XM_011509673.1:c.367C>T | XP_011507975.1:p.Arg123Cys | |
| XM_011509674.1:c.631C>T | XP_011507976.1:p.Arg211Cys | |
| XM_011509675.1:c.403C>T | XP_011507977.1:p.Arg135Cys | |
| XM_011509676.1:c.94C>T | XP_011507978.1:p.Arg32Cys | |
| XM_011509677.1:c.94C>T | XP_011507979.1:p.Arg32Cys | |
| XM_011509678.1:c.94C>T | XP_011507980.1:p.Arg32Cys | |
| XM_011509679.1:c.94C>T | XP_011507981.1:p.Arg32Cys | |
| XM_011509680.1:c.58C>T | XP_011507982.1:p.Arg20Cys | |
| XM_011509681.1:c.16C>T | XP_011507983.1:p.Arg6Cys | |
| XM_011509682.1:c.-87+335C>T | XP_011507984.1:n.-87+335C>T | |
| XR_921850.1:n.640C>T | ||
| NM_000309.4:c.502C>T | NP_000300.1:p.Arg168Cys | |
| NM_001122764.3:c.502C>T MANE Select | NP_001116236.1:p.Arg168Cys | |
| NM_001350128.1:c.403C>T | NP_001337057.1:p.Arg135Cys | |
| NM_001350129.1:c.94C>T | NP_001337058.1:p.Arg32Cys | |
| NM_001350130.1:c.16C>T | NP_001337059.1:p.Arg6Cys | |
| NM_001350131.1:c.16C>T | NP_001337060.1:p.Arg6Cys | |
| XM_005245291.4:c.502C>T | XP_005245348.2:p.Arg168Cys | |
| XM_006711404.4:c.631C>T | XP_006711467.2:p.Arg211Cys | |
| XM_011509663.2:c.631C>T | XP_011507965.1:p.Arg211Cys | |
| XM_011509665.2:c.631C>T | XP_011507967.1:p.Arg211Cys | |
| XM_011509666.2:c.631C>T | XP_011507968.1:p.Arg211Cys | |
| XM_011509667.2:c.517C>T | XP_011507969.1:p.Arg173Cys | |
| XM_011509668.2:c.517C>T | XP_011507970.1:p.Arg173Cys | |
| XM_011509670.2:c.517C>T | XP_011507972.1:p.Arg173Cys | |
| XM_011509672.3:c.517C>T | XP_011507974.1:p.Arg173Cys | |
| XM_011509673.2:c.367C>T | XP_011507975.1:p.Arg123Cys | |
| XM_011509674.2:c.631C>T | XP_011507976.1:p.Arg211Cys | |
| XM_017001559.1:c.631C>T | XP_016857048.1:p.Arg211Cys | |
| XM_017001560.2:c.502C>T | XP_016857049.1:p.Arg168Cys | |
| XM_017001562.1:c.94C>T | XP_016857051.1:p.Arg32Cys | |
| XM_017001563.2:c.16C>T | XP_016857052.1:p.Arg6Cys | |
| XM_017001564.1:c.16C>T | XP_016857053.1:p.Arg6Cys | |
| XM_017001566.2:c.94C>T | XP_016857055.1:p.Arg32Cys | |
| XM_017001567.1:c.94C>T | XP_016857056.1:p.Arg32Cys | |
| XM_017001570.1:c.-86-531C>T | XP_016857059.1:n.-86-531C>T | |
| XM_017001571.1:c.336+1228C>T | XP_016857060.1:n.336+1228C>T | |
| XM_024447863.1:c.502C>T | XP_024303631.1:p.Arg168Cys | |
| XM_024447864.1:c.367C>T | XP_024303632.1:p.Arg123Cys | |
| XM_024447865.1:c.94C>T | XP_024303633.1:p.Arg32Cys | |
| XM_024447866.1:c.94C>T | XP_024303634.1:p.Arg32Cys | |
| XM_024447867.1:c.94C>T | XP_024303635.1:p.Arg32Cys | |
| XM_024447874.1:c.94C>T | XP_024303642.1:p.Arg32Cys | |
| XM_024447877.1:c.16C>T | XP_024303645.1:p.Arg6Cys | |
| XR_921850.2:n.854C>T | ||
| NM_000309.5:c.502C>T | NP_000300.1:p.Arg168Cys | |
| NM_001350128.2:c.403C>T | NP_001337057.1:p.Arg135Cys | |
| NM_001350129.2:c.94C>T | NP_001337058.1:p.Arg32Cys | |
| NM_001350130.2:c.16C>T | NP_001337059.1:p.Arg6Cys | |
| NM_001350131.2:c.16C>T | NP_001337060.1:p.Arg6Cys | |
| NM_001365398.1:c.502C>T | NP_001352327.1:p.Arg168Cys | |
| NM_001365399.1:c.502C>T | NP_001352328.1:p.Arg168Cys | |
| NM_001365400.1:c.94C>T | NP_001352329.1:p.Arg32Cys | |
| NM_001365401.1:c.16C>T | NP_001352330.1:p.Arg6Cys |