Linked Data
ClinVar Variation Id:
217229
dbSNP Id:
rs745663149
ExAC:
8:75272434 C / T
gnomAD v2:
8-75272434-C-T
gnomAD v3:
8-74360199-C-T
gnomAD v4:
8-74360199-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.74360199C>T , CM000670.2:g.74360199C>T | GRCh38 |
| NC_000008.10:g.75272434C>T , CM000670.1:g.75272434C>T | GRCh37 |
| NC_000008.9:g.75434989C>T | NCBI36 |
| NG_008787.2:g.44070C>T | |
| NG_008787.3:g.44070C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220822.12:c.373C>T MANE Select | ENSP00000220822.7:p.Arg125Ter | |
| ENST00000434412.3:c.241C>T | ENSP00000417006.3:p.Arg81Ter | |
| ENST00000520797.6:n.484C>T | ||
| ENST00000521096.6:n.341-1685C>T | ||
| ENST00000522568.2:c.*45C>T | ENSP00000430136.1:n.*45C>T | |
| ENST00000523640.2:c.165+8878C>T | ENSP00000502017.1:n.165+8878C>T | |
| ENST00000524195.2:c.166-2740C>T | ENSP00000502308.1:n.166-2740C>T | |
| ENST00000674612.1:c.46C>T | ENSP00000501864.1:p.Arg16Ter | |
| ENST00000674710.1:c.373C>T | ENSP00000502762.1:p.Arg125Ter | |
| ENST00000674754.1:c.*45C>T | ENSP00000502063.1:n.*45C>T | |
| ENST00000674756.1:c.*45C>T | ENSP00000501860.1:n.*45C>T | |
| ENST00000674806.1:c.46C>T | ENSP00000502637.1:p.Arg16Ter | |
| ENST00000674865.1:c.169C>T | ENSP00000502437.1:p.Arg57Ter | |
| ENST00000674926.1:c.*45C>T | ENSP00000501799.1:n.*45C>T | |
| ENST00000674934.1:c.*61C>T | ENSP00000502187.1:n.*61C>T | |
| ENST00000674944.1:c.*45C>T | ENSP00000501858.1:n.*45C>T | |
| ENST00000674946.1:c.373C>T | ENSP00000501569.1:p.Arg125Ter | |
| ENST00000674973.1:c.178+50C>T | ENSP00000502447.1:n.178+50C>T | |
| ENST00000675007.1:c.*45C>T | ENSP00000502119.1:n.*45C>T | |
| ENST00000675060.1:c.*38C>T | ENSP00000501616.1:n.*38C>T | |
| ENST00000675165.1:c.373C>T | ENSP00000502612.1:p.Arg125Ter | |
| ENST00000675220.1:c.46C>T | ENSP00000502588.1:p.Arg16Ter | |
| ENST00000675265.1:c.*45C>T | ENSP00000501848.1:n.*45C>T | |
| ENST00000675336.1:c.166-1685C>T | ENSP00000502120.1:n.166-1685C>T | |
| ENST00000675376.1:c.46C>T | ENSP00000502838.1:p.Arg16Ter | |
| ENST00000675463.1:c.373C>T | ENSP00000502327.1:p.Arg125Ter | |
| ENST00000675472.1:c.118-1685C>T | ENSP00000501946.1:n.118-1685C>T | |
| ENST00000675560.1:c.*45C>T | ENSP00000502118.1:n.*45C>T | |
| ENST00000675565.1:n.190C>T | ||
| ENST00000675625.1:c.*45C>T | ENSP00000501626.1:n.*45C>T | |
| ENST00000675633.1:c.373C>T | ENSP00000501785.1:p.Arg125Ter | |
| ENST00000675661.1:c.*45C>T | ENSP00000501958.1:n.*45C>T | |
| ENST00000675706.1:n.440C>T | ||
| ENST00000675821.1:c.46C>T | ENSP00000502198.1:p.Arg16Ter | |
| ENST00000675832.1:c.*45C>T | ENSP00000502041.1:n.*45C>T | |
| ENST00000675928.1:c.311-1685C>T | ENSP00000501568.1:n.311-1685C>T | |
| ENST00000675944.1:c.169C>T | ENSP00000502673.1:p.Arg57Ter | |
| ENST00000675999.1:c.373C>T | ENSP00000502572.1:p.Arg125Ter | |
| ENST00000676049.1:c.*275C>T | ENSP00000501912.1:n.*275C>T | |
| ENST00000676112.1:c.373C>T | ENSP00000502295.1:p.Arg125Ter | |
| ENST00000676120.1:c.*45C>T | ENSP00000502036.1:n.*45C>T | |
| ENST00000676143.1:c.46C>T | ENSP00000502828.1:p.Arg16Ter | |
| ENST00000676207.1:c.373C>T | ENSP00000502638.1:p.Arg125Ter | |
| ENST00000676377.1:c.46C>T | ENSP00000502756.1:p.Arg16Ter | |
| ENST00000676415.1:c.373C>T | ENSP00000502665.1:p.Arg125Ter | |
| ENST00000676443.1:c.325C>T | ENSP00000501769.1:p.Arg109Ter | |
| ENST00000220822.11:c.373C>T | ENSP00000220822.7:p.Arg125Ter | |
| ENST00000434412.2:c.169C>T | ENSP00000417006.2:p.Arg57Ter | |
| ENST00000520797.5:n.138C>T | ||
| ENST00000521096.5:n.179C>T | ||
| ENST00000522568.1:c.*45C>T | ENSP00000430136.1:n.*45C>T | |
| ENST00000523640.1:n.208C>T | ||
| ENST00000524366.5:n.329-1685C>T | ||
| NM_001040875.2:c.169C>T | NP_001035808.1:p.Arg57Ter | |
| NM_018972.2:c.373C>T | NP_061845.2:p.Arg125Ter | |
| NR_046346.1:n.307C>T | ||
| XM_011517551.1:c.779-1685C>T | XP_011515853.1:n.779-1685C>T | |
| XM_011517552.1:c.46C>T | XP_011515854.1:p.Arg16Ter | |
| NM_001040875.3:c.169C>T | NP_001035808.1:p.Arg57Ter | |
| NM_001362929.1:c.46C>T | NP_001349858.1:p.Arg16Ter | |
| NM_001362930.1:c.311-1685C>T | NP_001349859.1:n.311-1685C>T | |
| NM_001362931.1:c.373C>T | NP_001349860.1:p.Arg125Ter | |
| NM_001362932.1:c.46C>T | NP_001349861.1:p.Arg16Ter | |
| NM_018972.3:c.373C>T | NP_061845.2:p.Arg125Ter | |
| XM_017013586.2:c.373C>T | XP_016869075.2:p.Arg125Ter | |
| NM_001362931.2:c.373C>T | NP_001349860.1:p.Arg125Ter | |
| NM_018972.4:c.373C>T MANE Select | NP_061845.2:p.Arg125Ter | |
| NM_001040875.4:c.169C>T | NP_001035808.1:p.Arg57Ter | |
| NM_001362929.2:c.46C>T | NP_001349858.1:p.Arg16Ter | |
| NM_001362930.2:c.311-1685C>T | NP_001349859.1:n.311-1685C>T | |
| NM_001362932.2:c.46C>T | NP_001349861.1:p.Arg16Ter |