Linked Data
ClinVar Variation Id:
1861
ClinVar RCV Id:
RCV000001938
RCV000200803
RCV001333150
RCV001703411
RCV001847563
RCV003258655
RCV003904794
dbSNP Id:
rs377637314
ExAC:
2:86444180 C / A
gnomAD v2:
2-86444180-C-A
gnomAD v3:
2-86217057-C-A
gnomAD v4:
2-86217057-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86217057C>A , CM000664.2:g.86217057C>A | GRCh38 |
| NC_000002.11:g.86444180C>A , CM000664.1:g.86444180C>A | GRCh37 |
| NC_000002.10:g.86297691C>A | NCBI36 |
| NG_013037.1:g.126027G>T , LRG_713:g.126027G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643817.2:c.801G>T | ENSP00000495610.2:p.Ser267= | |
| ENST00000686220.1:c.*97G>T | ENSP00000509904.1:n.*97G>T | |
| ENST00000687696.1:n.179G>T | ||
| ENST00000687927.1:n.1115G>T | ||
| ENST00000688400.1:c.337G>T | ENSP00000510490.1:n.337G>T | |
| ENST00000689156.1:c.471G>T | ENSP00000509143.1:p.Ser157= | |
| ENST00000691093.1:c.*43G>T | ENSP00000509465.1:n.*43G>T | |
| ENST00000691703.1:c.*43G>T | ENSP00000508496.1:n.*43G>T | |
| ENST00000692664.1:c.*43G>T | ENSP00000508656.1:n.*43G>T | |
| ENST00000693329.1:c.*123G>T | ENSP00000508490.1:n.*123G>T | |
| ENST00000453231.6:c.*43G>T | ENSP00000392197.2:n.*43G>T | |
| ENST00000535845.6:c.*43G>T | ENSP00000437567.1:n.*43G>T | |
| ENST00000538924.7:c.837G>T MANE Select | ENSP00000438346.3:p.Ser279= | |
| ENST00000541910.6:c.414G>T | ENSP00000442681.1:p.Ser138= | |
| ENST00000642243.1:c.945G>T | ENSP00000494960.1:p.Ser315= | |
| ENST00000643817.1:c.759G>T | ENSP00000495610.1:p.Ser253= | |
| ENST00000644644.1:c.846G>T | ENSP00000494305.1:p.Ser282= | |
| ENST00000646181.1:n.522G>T | ||
| ENST00000165698.9:c.*43G>T | ENSP00000165698.5:n.*43G>T | |
| ENST00000535845.5:c.*43G>T | ENSP00000437567.1:n.*43G>T | |
| ENST00000538924.5:c.*43G>T | ENSP00000438346.1:n.*43G>T | |
| ENST00000541910.5:c.414G>T | ENSP00000442681.1:p.Ser138= | |
| NM_001164730.1:c.*43G>T , LRG_713t1:c.*43G>T | NP_001158202.1:n.*43G>T | |
| NM_001164731.1:c.*43G>T | NP_001158203.1:n.*43G>T | |
| NM_001164732.1:c.414G>T | NP_001158204.1:p.Ser138= | |
| NM_022912.2:c.*43G>T , LRG_713t2:c.*43G>T | NP_075063.1:n.*43G>T | |
| XM_005264502.1:c.837G>T | XP_005264559.1:p.Ser279= | |
| XM_005264504.1:c.723G>T | XP_005264561.1:p.Ser241= | |
| XM_011533043.1:c.822G>T | XP_011531345.1:p.Ser274= | |
| XM_011533044.1:c.819G>T | XP_011531346.1:p.Ser273= | |
| XM_011533045.1:c.813G>T | XP_011531347.1:p.Ser271= | |
| XM_011533046.1:c.*43G>T | XP_011531348.1:n.*43G>T | |
| XM_005264502.2:c.837G>T | XP_005264559.1:p.Ser279= | |
| XM_011533045.2:c.813G>T | XP_011531347.1:p.Ser271= | |
| XM_017004725.1:c.822G>T | XP_016860214.1:p.Ser274= | |
| XM_017004726.1:c.*43G>T | XP_016860215.1:n.*43G>T | |
| XM_017004727.1:c.*43G>T | XP_016860216.1:n.*43G>T | |
| NM_001164730.2:c.*43G>T | NP_001158202.1:n.*43G>T | |
| NM_001164731.2:c.*43G>T | NP_001158203.1:n.*43G>T | |
| NM_001164732.2:c.414G>T | NP_001158204.1:p.Ser138= | |
| NM_001371279.1:c.837G>T MANE Select | NP_001358208.1:p.Ser279= | |
| NM_001371280.1:c.471G>T | NP_001358209.1:p.Ser157= | |
| NM_022912.3:c.*43G>T | NP_075063.1:n.*43G>T |