Linked Data
ClinVar Variation Id:
254245
ClinVar RCV Id:
RCV000240853
dbSNP Id:
rs886037930
gnomAD v3:
2-85847939-C-G
gnomAD v4:
2-85847939-C-G
PubMed:
PMID:27232954
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85847939C>G , CM000664.2:g.85847939C>G | GRCh38 |
| NC_000002.11:g.86075062C>G , CM000664.1:g.86075062C>G | GRCh37 |
| NC_000002.10:g.85928573C>G | NCBI36 |
| NG_012807.1:g.46096G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306262.10:c.*328G>C | ENSP00000306247.6:n.*328G>C | |
| ENST00000377332.8:c.464G>C | ENSP00000366549.4:p.Cys155Ser | |
| ENST00000393805.6:c.500G>C | ENSP00000377394.1:p.Cys167Ser | |
| ENST00000393808.8:c.515G>C | ENSP00000377397.3:p.Cys172Ser | |
| ENST00000638178.1:c.500G>C | ENSP00000492103.1:p.Cys167Ser | |
| ENST00000638227.1:c.*627G>C | ENSP00000492602.1:n.*627G>C | |
| ENST00000638288.1:c.*748G>C | ENSP00000491699.1:n.*748G>C | |
| ENST00000638321.1:c.658G>C | ||
| ENST00000638484.1:c.*804G>C | ENSP00000492635.1:n.*804G>C | |
| ENST00000638523.1:c.1239G>C | ||
| ENST00000638542.1:c.*22G>C | ENSP00000492468.1:n.*22G>C | |
| ENST00000638572.2:c.584G>C MANE Select | ENSP00000491316.1:p.Cys195Ser | |
| ENST00000638581.1:n.610G>C | ||
| ENST00000638659.1:c.650G>C | ||
| ENST00000638678.1:c.582G>C | ||
| ENST00000638855.1:c.*22G>C | ENSP00000490979.1:n.*22G>C | |
| ENST00000638885.1:c.*422G>C | ENSP00000492209.1:n.*422G>C | |
| ENST00000638956.1:c.*856G>C | ENSP00000492097.1:n.*856G>C | |
| ENST00000638986.1:c.500G>C | ENSP00000491853.1:p.Cys167Ser | |
| ENST00000639074.1:n.2996G>C | ||
| ENST00000639119.1:c.584G>C | ENSP00000492045.1:p.Cys195Ser | |
| ENST00000639184.1:c.*748G>C | ENSP00000492305.1:n.*748G>C | |
| ENST00000639202.1:c.202-1376G>C | ENSP00000492710.1:n.202-1376G>C | |
| ENST00000639216.1:n.606G>C | ||
| ENST00000639305.1:c.582G>C | ||
| ENST00000639311.1:c.*374G>C | ENSP00000491398.1:n.*374G>C | |
| ENST00000639421.1:c.1352G>C | ENSP00000491029.1:n.1352G>C | |
| ENST00000639432.1:c.500G>C | ENSP00000491828.1:p.Cys167Ser | |
| ENST00000639541.1:c.*940G>C | ENSP00000492280.1:n.*940G>C | |
| ENST00000639608.1:c.*422G>C | ENSP00000492473.1:n.*422G>C | |
| ENST00000639743.1:n.4295G>C | ||
| ENST00000639820.1:c.*1018G>C | ENSP00000491802.1:n.*1018G>C | |
| ENST00000639867.1:n.2991G>C | ||
| ENST00000639945.1:c.*500G>C | ENSP00000492866.1:n.*500G>C | |
| ENST00000639981.1:c.1071G>C | ||
| ENST00000640024.1:c.*748G>C | ENSP00000491238.1:n.*748G>C | |
| ENST00000640222.1:c.737G>C | ||
| ENST00000640295.1:c.948G>C | ENSP00000491027.1:n.948G>C | |
| ENST00000640314.1:c.627G>C | ENSP00000491315.1:n.627G>C | |
| ENST00000640315.1:c.560G>C | ENSP00000492089.1:p.Cys187Ser | |
| ENST00000640322.1:c.500G>C | ENSP00000491564.1:p.Cys167Ser | |
| ENST00000640378.1:c.898G>C | ENSP00000492030.1:n.898G>C | |
| ENST00000640418.1:c.641G>C | ENSP00000492098.1:p.Cys214Ser | |
| ENST00000640425.1:c.567G>C | ||
| ENST00000640453.1:n.2260G>C | ||
| ENST00000640572.1:c.436G>C | ||
| ENST00000640594.1:c.*627G>C | ENSP00000491356.1:n.*627G>C | |
| ENST00000640712.1:n.2932G>C | ||
| ENST00000640763.1:c.2933G>C | ||
| ENST00000640798.1:n.2199G>C | ||
| ENST00000640835.1:c.643G>C | ||
| ENST00000640849.1:c.620G>C | ENSP00000491701.1:n.620G>C | |
| ENST00000640903.1:c.670G>C | ||
| ENST00000640982.1:c.500G>C | ENSP00000492299.1:p.Cys167Ser | |
| ENST00000640992.1:c.500G>C | ENSP00000492753.1:p.Cys167Ser | |
| ENST00000306262.9:c.*422G>C | ENSP00000306247.5:n.*422G>C | |
| ENST00000377332.7:c.584G>C | ENSP00000366549.3:p.Cys195Ser | |
| ENST00000393805.5:c.500G>C | ENSP00000377394.1:p.Cys167Ser | |
| ENST00000393808.7:c.515G>C | ENSP00000377397.3:p.Cys172Ser | |
| ENST00000461206.1:n.1638G>C | ||
| NM_001042437.1:c.515G>C | NP_001035902.1:p.Cys172Ser | |
| NM_003896.3:c.584G>C | NP_003887.3:p.Cys195Ser | |
| XM_005264630.3:c.584G>C | XP_005264687.1:p.Cys195Ser | |
| XM_011533143.1:c.200G>C | XP_011531445.1:p.Cys67Ser | |
| XR_939734.1:n.669G>C | ||
| NM_001354223.1:c.200G>C | NP_001341152.1:p.Cys67Ser | |
| NM_001354224.1:c.200G>C | NP_001341153.1:p.Cys67Ser | |
| NM_001354226.1:c.200G>C | NP_001341155.1:p.Cys67Ser | |
| NM_001354227.1:c.500G>C | NP_001341156.1:p.Cys167Ser | |
| NM_001354229.1:c.500G>C | NP_001341158.1:p.Cys167Ser | |
| NM_001354233.1:c.200G>C | NP_001341162.1:p.Cys67Ser | |
| NM_001354234.1:c.200G>C | NP_001341163.1:p.Cys67Ser | |
| NM_001354238.1:c.500G>C | NP_001341167.1:p.Cys167Ser | |
| NM_001354247.1:c.-321G>C | NP_001341176.1:n.-321G>C | |
| NM_001354248.1:c.200G>C | NP_001341177.1:p.Cys67Ser | |
| NM_001363847.1:c.584G>C | NP_001350776.1:p.Cys195Ser | |
| XM_017005202.2:c.500G>C | XP_016860691.1:p.Cys167Ser | |
| XM_017005203.2:c.200G>C | XP_016860692.1:p.Cys67Ser | |
| XM_017005204.2:c.200G>C | XP_016860693.1:p.Cys67Ser | |
| XM_017005205.2:c.200G>C | XP_016860694.1:p.Cys67Ser | |
| XM_017005206.2:c.200G>C | XP_016860695.1:p.Cys67Ser | |
| XM_017005208.2:c.200G>C | XP_016860697.1:p.Cys67Ser | |
| XM_017005209.1:c.200G>C | XP_016860698.1:p.Cys67Ser | |
| XM_017005212.2:c.200G>C | XP_016860701.1:p.Cys67Ser | |
| XM_017005213.2:c.200G>C | XP_016860702.1:p.Cys67Ser | |
| XM_017005214.2:c.200G>C | XP_016860703.1:p.Cys67Ser | |
| XR_001739019.1:n.669G>C | ||
| XR_001739020.1:n.1341G>C | ||
| XR_001739021.1:n.1518G>C | ||
| NM_003896.4:c.584G>C MANE Select | NP_003887.3:p.Cys195Ser | |
| NM_001042437.2:c.515G>C | NP_001035902.1:p.Cys172Ser | |
| NM_001354223.2:c.200G>C | NP_001341152.1:p.Cys67Ser | |
| NM_001354224.2:c.200G>C | NP_001341153.1:p.Cys67Ser | |
| NM_001354226.2:c.200G>C | NP_001341155.1:p.Cys67Ser | |
| NM_001354227.2:c.500G>C | NP_001341156.1:p.Cys167Ser | |
| NM_001354229.2:c.500G>C | NP_001341158.1:p.Cys167Ser | |
| NM_001354233.2:c.200G>C | NP_001341162.1:p.Cys67Ser |