Linked Data
ClinVar Variation Id:
309783
ClinVar RCV Id:
RCV000946072
dbSNP Id:
rs746986308
ExAC:
12:56088459 G / A
gnomAD v2:
12-56088459-G-A
gnomAD v3:
12-55694675-G-A
gnomAD v4:
12-55694675-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55694675G>A , CM000674.2:g.55694675G>A | GRCh38 |
| NC_000012.11:g.56088459G>A , CM000674.1:g.56088459G>A | GRCh37 |
| NC_000012.10:g.54374726G>A | NCBI36 |
| NG_012343.1:g.22631C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553893.6:c.*1841C>T | ENSP00000452467.1:n.*1841C>T | |
| ENST00000554327.6:c.888C>T | ||
| ENST00000557058.2:n.1632C>T | ||
| ENST00000557257.2:c.1743C>T | ENSP00000450578.2:p.Ser581= | |
| ENST00000557555.3:c.2229C>T | ENSP00000451039.3:p.Ser743= | |
| ENST00000686981.1:c.*1928C>T | ENSP00000510795.1:n.*1928C>T | |
| ENST00000687390.1:n.323C>T | ||
| ENST00000689678.1:n.241C>T | ||
| ENST00000691052.1:c.*701C>T | ENSP00000508886.1:n.*701C>T | |
| ENST00000691846.1:c.1030C>T | ||
| ENST00000691973.1:c.2229C>T | ENSP00000509141.1:p.Ser743= | |
| ENST00000257879.11:c.2217C>T MANE Select | ENSP00000257879.7:p.Ser739= | |
| ENST00000553804.6:c.2229C>T | ENSP00000452120.1:p.Ser743= | |
| ENST00000257879.10:c.2217C>T | ENSP00000257879.6:p.Ser739= | |
| ENST00000347027.10:c.2199C>T | ENSP00000343009.6:p.Ser733= | |
| ENST00000452168.6:c.1938C>T | ENSP00000393844.2:p.Ser646= | |
| ENST00000553804.5:c.2229C>T | ENSP00000452120.1:p.Ser743= | |
| ENST00000554327.5:c.282C>T | ||
| ENST00000555728.5:c.2349C>T | ENSP00000452387.1:p.Ser783= | |
| ENST00000557058.1:n.1015C>T | ||
| NM_001144996.1:c.2229C>T | NP_001138468.1:p.Ser743= | |
| NM_001144997.1:c.1938C>T | NP_001138469.1:p.Ser646= | |
| NM_002206.2:c.2217C>T | NP_002197.2:p.Ser739= | |
| XM_005268839.1:c.2349C>T | XP_005268896.1:p.Ser783= | |
| XM_005268840.1:c.2331C>T | XP_005268897.1:p.Ser777= | |
| XM_005268841.1:c.2349C>T | XP_005268898.1:p.Ser783= | |
| XM_005268842.1:c.2199C>T | XP_005268899.1:p.Ser733= | |
| XM_005268844.1:c.2010C>T | XP_005268901.1:p.Ser670= | |
| XM_005268845.1:c.1878C>T | XP_005268902.1:p.Ser626= | |
| XM_005268846.1:c.1878C>T | XP_005268903.1:p.Ser626= | |
| XM_005268847.1:c.1875C>T | XP_005268904.1:p.Ser625= | |
| XM_005268848.1:c.1875C>T | XP_005268905.1:p.Ser625= | |
| XM_005268849.1:c.1875C>T | XP_005268906.1:p.Ser625= | |
| XM_005268850.1:c.1743C>T | XP_005268907.1:p.Ser581= | |
| XM_011538286.1:c.2010C>T | XP_011536588.1:p.Ser670= | |
| XM_005268839.2:c.2349C>T | XP_005268896.1:p.Ser783= | |
| XM_005268840.2:c.2331C>T | XP_005268897.1:p.Ser777= | |
| XM_005268841.2:c.2349C>T | XP_005268898.1:p.Ser783= | |
| XM_005268842.2:c.2199C>T | XP_005268899.1:p.Ser733= | |
| XM_017019265.1:c.1959C>T | XP_016874754.1:p.Ser653= | |
| NM_001144996.2:c.2229C>T | NP_001138468.1:p.Ser743= | |
| NM_001367993.1:c.1890C>T | NP_001354922.1:p.Ser630= | |
| NM_001367994.1:c.873C>T | NP_001354923.1:p.Ser291= | |
| NM_001374465.1:c.2199C>T | NP_001361394.1:p.Ser733= | |
| NM_002206.3:c.2217C>T MANE Select | NP_002197.2:p.Ser739= |