Linked Data
ClinVar Variation Id:
909881
dbSNP Id:
rs121908115
gnomAD v2:
8-75276244-G-C
gnomAD v4:
8-74364009-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.74364009G>C , CM000670.2:g.74364009G>C | GRCh38 |
| NC_000008.10:g.75276244G>C , CM000670.1:g.75276244G>C | GRCh37 |
| NC_000008.9:g.75438799G>C | NCBI36 |
| NG_008787.2:g.47880G>C | |
| NG_008787.3:g.47880G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000220822.12:c.719G>C MANE Select | ENSP00000220822.7:p.Cys240Ser | |
| ENST00000434412.3:c.587G>C | ENSP00000417006.3:p.Cys196Ser | |
| ENST00000520797.6:n.830G>C | ||
| ENST00000521096.6:n.575G>C | ||
| ENST00000522568.2:c.*391G>C | ENSP00000430136.1:n.*391G>C | |
| ENST00000523640.2:c.165+12688G>C | ENSP00000502017.1:n.165+12688G>C | |
| ENST00000524195.2:c.280+956G>C | ENSP00000502308.1:n.280+956G>C | |
| ENST00000674612.1:c.392G>C | ENSP00000501864.1:p.Cys131Ser | |
| ENST00000674710.1:c.694+956G>C | ENSP00000502762.1:n.694+956G>C | |
| ENST00000674754.1:c.*2282G>C | ENSP00000502063.1:n.*2282G>C | |
| ENST00000674756.1:c.*366+956G>C | ENSP00000501860.1:n.*366+956G>C | |
| ENST00000674806.1:c.392G>C | ENSP00000502637.1:p.Cys131Ser | |
| ENST00000674865.1:c.515G>C | ENSP00000502437.1:p.Cys172Ser | |
| ENST00000674926.1:c.*1351G>C | ENSP00000501799.1:n.*1351G>C | |
| ENST00000674934.1:c.*407G>C | ENSP00000502187.1:n.*407G>C | |
| ENST00000674944.1:c.*1322G>C | ENSP00000501858.1:n.*1322G>C | |
| ENST00000674946.1:c.694+956G>C | ENSP00000501569.1:n.694+956G>C | |
| ENST00000674973.1:c.413G>C | ENSP00000502447.1:p.Cys138Ser | |
| ENST00000675007.1:c.*457G>C | ENSP00000502119.1:n.*457G>C | |
| ENST00000675060.1:c.*384G>C | ENSP00000501616.1:n.*384G>C | |
| ENST00000675165.1:c.716G>C | ENSP00000502612.1:p.Cys239Ser | |
| ENST00000675220.1:c.392G>C | ENSP00000502588.1:p.Cys131Ser | |
| ENST00000675265.1:c.*469G>C | ENSP00000501848.1:n.*469G>C | |
| ENST00000675336.1:c.*205G>C | ENSP00000502120.1:n.*205G>C | |
| ENST00000675376.1:c.392G>C | ENSP00000502838.1:p.Cys131Ser | |
| ENST00000675463.1:c.797G>C | ENSP00000502327.1:p.Cys266Ser | |
| ENST00000675472.1:c.*205G>C | ENSP00000501946.1:n.*205G>C | |
| ENST00000675474.1:n.304G>C | ||
| ENST00000675560.1:c.*366+956G>C | ENSP00000502118.1:n.*366+956G>C | |
| ENST00000675625.1:c.*391G>C | ENSP00000501626.1:n.*391G>C | |
| ENST00000675633.1:c.*126G>C | ENSP00000501785.1:n.*126G>C | |
| ENST00000675661.1:c.*479G>C | ENSP00000501958.1:n.*479G>C | |
| ENST00000675706.1:n.2677G>C | ||
| ENST00000675821.1:c.392G>C | ENSP00000502198.1:p.Cys131Ser | |
| ENST00000675832.1:c.*391G>C | ENSP00000502041.1:n.*391G>C | |
| ENST00000675928.1:c.545G>C | ENSP00000501568.1:p.Cys182Ser | |
| ENST00000675944.1:c.515G>C | ENSP00000502673.1:p.Cys172Ser | |
| ENST00000675999.1:c.694+956G>C | ENSP00000502572.1:n.694+956G>C | |
| ENST00000676049.1:c.*621G>C | ENSP00000501912.1:n.*621G>C | |
| ENST00000676112.1:c.785G>C | ENSP00000502295.1:p.Cys262Ser | |
| ENST00000676143.1:c.392G>C | ENSP00000502828.1:p.Cys131Ser | |
| ENST00000676207.1:c.694+956G>C | ENSP00000502638.1:n.694+956G>C | |
| ENST00000676377.1:c.392G>C | ENSP00000502756.1:p.Cys131Ser | |
| ENST00000676415.1:c.*25G>C | ENSP00000502665.1:n.*25G>C | |
| ENST00000676443.1:c.671G>C | ENSP00000501769.1:p.Cys224Ser | |
| ENST00000220822.11:c.719G>C | ENSP00000220822.7:p.Cys240Ser | |
| ENST00000434412.2:c.515G>C | ENSP00000417006.2:p.Cys172Ser | |
| ENST00000520797.5:n.484G>C | ||
| ENST00000521096.5:n.525G>C | ||
| ENST00000522568.1:c.*391G>C | ENSP00000430136.1:n.*391G>C | |
| ENST00000524195.1:n.103+956G>C | ||
| ENST00000524366.5:n.563G>C | ||
| NM_001040875.2:c.515G>C | NP_001035808.1:p.Cys172Ser | |
| NM_018972.2:c.719G>C | NP_061845.2:p.Cys240Ser | |
| NR_046346.1:n.653G>C | ||
| XM_011517551.1:c.1013G>C | XP_011515853.1:p.Cys338Ser | |
| XM_011517552.1:c.392G>C | XP_011515854.1:p.Cys131Ser | |
| NM_001040875.3:c.515G>C | NP_001035808.1:p.Cys172Ser | |
| NM_001362929.1:c.392G>C | NP_001349858.1:p.Cys131Ser | |
| NM_001362930.1:c.545G>C | NP_001349859.1:p.Cys182Ser | |
| NM_001362931.1:c.694+956G>C | NP_001349860.1:n.694+956G>C | |
| NM_001362932.1:c.392G>C | NP_001349861.1:p.Cys131Ser | |
| NM_018972.3:c.719G>C | NP_061845.2:p.Cys240Ser | |
| NM_001362931.2:c.694+956G>C | NP_001349860.1:n.694+956G>C | |
| NM_018972.4:c.719G>C MANE Select | NP_061845.2:p.Cys240Ser | |
| NM_001040875.4:c.515G>C | NP_001035808.1:p.Cys172Ser | |
| NM_001362929.2:c.392G>C | NP_001349858.1:p.Cys131Ser | |
| NM_001362930.2:c.545G>C | NP_001349859.1:p.Cys182Ser | |
| NM_001362932.2:c.392G>C | NP_001349861.1:p.Cys131Ser |