Linked Data
ClinVar Variation Id:
4193
dbSNP Id:
rs104894077
ExAC:
8:75274121 C / T
gnomAD v2:
8-75274121-C-T
gnomAD v3:
8-74361886-C-T
gnomAD v4:
8-74361886-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.74361886C>T , CM000670.2:g.74361886C>T | GRCh38 |
| NC_000008.10:g.75274121C>T , CM000670.1:g.75274121C>T | GRCh37 |
| NC_000008.9:g.75436676C>T | NCBI36 |
| NG_008787.2:g.45757C>T | |
| NG_008787.3:g.45757C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000220822.12:c.487C>T MANE Select | ENSP00000220822.7:p.Gln163Ter | |
| ENST00000434412.3:c.355C>T | ENSP00000417006.3:p.Gln119Ter | |
| ENST00000520797.6:n.598C>T | ||
| ENST00000521096.6:n.343C>T | ||
| ENST00000522568.2:c.*159C>T | ENSP00000430136.1:n.*159C>T | |
| ENST00000523640.2:c.165+10565C>T | ENSP00000502017.1:n.165+10565C>T | |
| ENST00000524195.2:c.166-1053C>T | ENSP00000502308.1:n.166-1053C>T | |
| ENST00000674612.1:c.160C>T | ENSP00000501864.1:p.Gln54Ter | |
| ENST00000674710.1:c.487C>T | ENSP00000502762.1:p.Gln163Ter | |
| ENST00000674754.1:c.*159C>T | ENSP00000502063.1:n.*159C>T | |
| ENST00000674756.1:c.*159C>T | ENSP00000501860.1:n.*159C>T | |
| ENST00000674806.1:c.160C>T | ENSP00000502637.1:p.Gln54Ter | |
| ENST00000674865.1:c.283C>T | ENSP00000502437.1:p.Gln95Ter | |
| ENST00000674926.1:c.*159C>T | ENSP00000501799.1:n.*159C>T | |
| ENST00000674934.1:c.*175C>T | ENSP00000502187.1:n.*175C>T | |
| ENST00000674944.1:c.*159C>T | ENSP00000501858.1:n.*159C>T | |
| ENST00000674946.1:c.487C>T | ENSP00000501569.1:p.Gln163Ter | |
| ENST00000674973.1:c.181C>T | ENSP00000502447.1:p.Gln61Ter | |
| ENST00000675007.1:c.*159C>T | ENSP00000502119.1:n.*159C>T | |
| ENST00000675060.1:c.*152C>T | ENSP00000501616.1:n.*152C>T | |
| ENST00000675165.1:c.487C>T | ENSP00000502612.1:p.Gln163Ter | |
| ENST00000675220.1:c.160C>T | ENSP00000502588.1:p.Gln54Ter | |
| ENST00000675265.1:c.*159C>T | ENSP00000501848.1:n.*159C>T | |
| ENST00000675336.1:c.168C>T | ENSP00000502120.1:p.Ala56= | |
| ENST00000675376.1:c.160C>T | ENSP00000502838.1:p.Gln54Ter | |
| ENST00000675463.1:c.487C>T | ENSP00000502327.1:p.Gln163Ter | |
| ENST00000675472.1:c.120C>T | ENSP00000501946.1:p.Ala40= | |
| ENST00000675560.1:c.*159C>T | ENSP00000502118.1:n.*159C>T | |
| ENST00000675565.1:n.304C>T | ||
| ENST00000675625.1:c.*159C>T | ENSP00000501626.1:n.*159C>T | |
| ENST00000675633.1:c.487C>T | ENSP00000501785.1:p.Gln163Ter | |
| ENST00000675661.1:c.*159C>T | ENSP00000501958.1:n.*159C>T | |
| ENST00000675706.1:n.554C>T | ||
| ENST00000675821.1:c.160C>T | ENSP00000502198.1:p.Gln54Ter | |
| ENST00000675832.1:c.*159C>T | ENSP00000502041.1:n.*159C>T | |
| ENST00000675928.1:c.313C>T | ENSP00000501568.1:p.Gln105Ter | |
| ENST00000675944.1:c.283C>T | ENSP00000502673.1:p.Gln95Ter | |
| ENST00000675999.1:c.487C>T | ENSP00000502572.1:p.Gln163Ter | |
| ENST00000676049.1:c.*389C>T | ENSP00000501912.1:n.*389C>T | |
| ENST00000676112.1:c.487C>T | ENSP00000502295.1:p.Gln163Ter | |
| ENST00000676120.1:c.*159C>T | ENSP00000502036.1:n.*159C>T | |
| ENST00000676143.1:c.160C>T | ENSP00000502828.1:p.Gln54Ter | |
| ENST00000676207.1:c.487C>T | ENSP00000502638.1:p.Gln163Ter | |
| ENST00000676377.1:c.160C>T | ENSP00000502756.1:p.Gln54Ter | |
| ENST00000676415.1:c.487C>T | ENSP00000502665.1:p.Gln163Ter | |
| ENST00000676443.1:c.439C>T | ENSP00000501769.1:p.Gln147Ter | |
| ENST00000220822.11:c.487C>T | ENSP00000220822.7:p.Gln163Ter | |
| ENST00000434412.2:c.283C>T | ENSP00000417006.2:p.Gln95Ter | |
| ENST00000520797.5:n.252C>T | ||
| ENST00000521096.5:n.293C>T | ||
| ENST00000522568.1:c.*159C>T | ENSP00000430136.1:n.*159C>T | |
| ENST00000524366.5:n.331C>T | ||
| NM_001040875.2:c.283C>T | NP_001035808.1:p.Gln95Ter | |
| NM_018972.2:c.487C>T | NP_061845.2:p.Gln163Ter | |
| NR_046346.1:n.421C>T | ||
| XM_011517551.1:c.781C>T | XP_011515853.1:p.Gln261Ter | |
| XM_011517552.1:c.160C>T | XP_011515854.1:p.Gln54Ter | |
| NM_001040875.3:c.283C>T | NP_001035808.1:p.Gln95Ter | |
| NM_001362929.1:c.160C>T | NP_001349858.1:p.Gln54Ter | |
| NM_001362930.1:c.313C>T | NP_001349859.1:p.Gln105Ter | |
| NM_001362931.1:c.487C>T | NP_001349860.1:p.Gln163Ter | |
| NM_001362932.1:c.160C>T | NP_001349861.1:p.Gln54Ter | |
| NM_018972.3:c.487C>T | NP_061845.2:p.Gln163Ter | |
| XM_017013586.2:c.487C>T | XP_016869075.2:p.Gln163Ter | |
| NM_001362931.2:c.487C>T | NP_001349860.1:p.Gln163Ter | |
| NM_018972.4:c.487C>T MANE Select | NP_061845.2:p.Gln163Ter | |
| NM_001040875.4:c.283C>T | NP_001035808.1:p.Gln95Ter | |
| NM_001362929.2:c.160C>T | NP_001349858.1:p.Gln54Ter | |
| NM_001362930.2:c.313C>T | NP_001349859.1:p.Gln105Ter | |
| NM_001362932.2:c.160C>T | NP_001349861.1:p.Gln54Ter |