Linked Data
ClinVar Variation Id:
518733
ClinVar RCV Id:
RCV000619430
dbSNP Id:
rs762326811
ExAC:
3:12641754 C / A
gnomAD v2:
3-12641754-C-A
gnomAD v4:
3-12600255-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12600255C>A , CM000665.2:g.12600255C>A | GRCh38 |
| NC_000003.11:g.12641754C>A , CM000665.1:g.12641754C>A | GRCh37 |
| NC_000003.10:g.12616754C>A | NCBI36 |
| NG_007467.1:g.68925G>T , LRG_413:g.68925G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*552G>T | ENSP00000401088.1:n.*552G>T | |
| ENST00000432427.3:c.207G>T | ||
| ENST00000465826.6:n.478G>T | ||
| ENST00000491290.2:n.1264G>T | ||
| ENST00000684903.1:c.*564G>T | ENSP00000508612.1:n.*564G>T | |
| ENST00000685348.1:c.*564G>T | ENSP00000510285.1:n.*564G>T | |
| ENST00000685437.1:c.788G>T | ENSP00000508794.1:p.Ser263Ile | |
| ENST00000685438.1:n.651G>T | ||
| ENST00000685653.1:c.887G>T | ENSP00000509968.1:p.Ser296Ile | |
| ENST00000685738.1:c.887G>T | ENSP00000510156.1:p.Ser296Ile | |
| ENST00000686409.1:n.1595G>T | ||
| ENST00000686455.1:n.1250G>T | ||
| ENST00000686479.1:n.1258G>T | ||
| ENST00000686762.1:c.887G>T | ENSP00000509767.1:p.Ser296Ile | |
| ENST00000687257.1:n.1123G>T | ||
| ENST00000687326.1:c.887G>T | ENSP00000509665.1:p.Ser296Ile | |
| ENST00000687486.1:c.182+133G>T | ||
| ENST00000687505.1:n.1005G>T | ||
| ENST00000687923.1:c.788G>T | ENSP00000510255.1:p.Ser263Ile | |
| ENST00000687940.1:n.1264G>T | ||
| ENST00000688269.1:n.1483G>T | ||
| ENST00000688326.1:c.207G>T | ||
| ENST00000688444.1:n.1213G>T | ||
| ENST00000688543.1:c.788G>T | ENSP00000509612.1:p.Ser263Ile | |
| ENST00000688625.1:c.*465G>T | ENSP00000509522.1:n.*465G>T | |
| ENST00000688803.1:n.1118G>T | ||
| ENST00000689097.1:c.*564G>T | ENSP00000509756.1:n.*564G>T | |
| ENST00000689389.1:c.887G>T | ENSP00000510213.1:p.Ser296Ile | |
| ENST00000689418.1:c.*564G>T | ENSP00000509467.1:n.*564G>T | |
| ENST00000689481.1:c.*564G>T | ENSP00000510248.1:n.*564G>T | |
| ENST00000689540.1:n.1037G>T | ||
| ENST00000689876.1:c.887G>T | ENSP00000508535.1:p.Ser296Ile | |
| ENST00000689914.1:c.887G>T | ENSP00000509847.1:p.Ser296Ile | |
| ENST00000690397.1:c.776G>T | ENSP00000508730.1:p.Ser259Ile | |
| ENST00000690460.1:c.875G>T | ENSP00000509106.1:p.Ser292Ile | |
| ENST00000690625.1:n.1190G>T | ||
| ENST00000691268.1:c.314G>T | ||
| ENST00000691396.1:c.*680G>T | ENSP00000510712.1:n.*680G>T | |
| ENST00000691724.1:c.887G>T | ENSP00000509255.1:p.Ser296Ile | |
| ENST00000691779.1:c.*465G>T | ENSP00000508592.1:n.*465G>T | |
| ENST00000691899.1:c.887G>T | ENSP00000508763.1:p.Ser296Ile | |
| ENST00000692069.1:n.1110G>T | ||
| ENST00000692093.1:c.788G>T | ENSP00000509669.1:p.Ser263Ile | |
| ENST00000692311.1:n.1368G>T | ||
| ENST00000692558.1:n.1252G>T | ||
| ENST00000692773.1:c.*624G>T | ENSP00000509055.1:n.*624G>T | |
| ENST00000692830.1:c.*632G>T | ENSP00000509461.1:n.*632G>T | |
| ENST00000693069.1:c.788G>T | ENSP00000510072.1:p.Ser263Ile | |
| ENST00000693312.1:c.662G>T | ENSP00000508686.1:p.Ser221Ile | |
| ENST00000693664.1:c.887G>T | ENSP00000509614.1:p.Ser296Ile | |
| ENST00000693705.1:c.*564G>T | ENSP00000510697.1:n.*564G>T | |
| ENST00000251849.9:c.887G>T MANE Select | ENSP00000251849.4:p.Ser296Ile | |
| ENST00000442415.7:c.947G>T | ENSP00000401888.2:p.Ser316Ile | |
| ENST00000251849.8:c.887G>T | ENSP00000251849.4:p.Ser296Ile | |
| ENST00000423275.5:c.*564G>T | ENSP00000401088.1:n.*564G>T | |
| ENST00000432427.2:c.524G>T | ENSP00000398591.2:p.Ser175Ile | |
| ENST00000442415.6:c.947G>T | ENSP00000401888.2:p.Ser316Ile | |
| ENST00000465826.5:n.131G>T | ||
| ENST00000491290.1:n.516G>T | ||
| NM_002880.3:c.887G>T , LRG_413t1:c.887G>T | NP_002871.1:p.Ser296Ile | |
| XM_005265355.1:c.887G>T | XP_005265412.1:p.Ser296Ile | |
| XM_005265357.1:c.788G>T | XP_005265414.1:p.Ser263Ile | |
| XM_005265358.3:c.644G>T | XP_005265415.1:p.Ser215Ile | |
| XM_005265359.3:c.545G>T | XP_005265416.1:p.Ser182Ile | |
| XM_005265360.1:c.887G>T | XP_005265417.1:p.Ser296Ile | |
| XM_011533974.1:c.887G>T | XP_011532276.1:p.Ser296Ile | |
| XM_011533975.1:c.644G>T | XP_011532277.1:p.Ser215Ile | |
| NM_001354689.1:c.947G>T | NP_001341618.1:p.Ser316Ile | |
| NM_001354690.1:c.887G>T | NP_001341619.1:p.Ser296Ile | |
| NM_001354691.1:c.644G>T | NP_001341620.1:p.Ser215Ile | |
| NM_001354692.1:c.644G>T | NP_001341621.1:p.Ser215Ile | |
| NM_001354693.1:c.788G>T | NP_001341622.1:p.Ser263Ile | |
| NM_001354694.1:c.704G>T | NP_001341623.1:p.Ser235Ile | |
| NM_001354695.1:c.545G>T | NP_001341624.1:p.Ser182Ile | |
| NR_148940.1:n.1302G>T | ||
| NR_148941.1:n.1302G>T | ||
| NR_148942.1:n.1302G>T | ||
| XM_011533974.3:c.887G>T | XP_011532276.1:p.Ser296Ile | |
| XM_017006966.1:c.788G>T | XP_016862455.1:p.Ser263Ile | |
| XR_001740227.1:n.1119G>T | ||
| NM_001354689.3:c.947G>T | NP_001341618.1:p.Ser316Ile | |
| NM_001354690.2:c.887G>T | NP_001341619.1:p.Ser296Ile | |
| NM_001354691.2:c.644G>T | NP_001341620.1:p.Ser215Ile | |
| NM_001354692.2:c.644G>T | NP_001341621.1:p.Ser215Ile | |
| NM_001354693.2:c.788G>T | NP_001341622.1:p.Ser263Ile | |
| NM_001354694.2:c.704G>T | NP_001341623.1:p.Ser235Ile | |
| NM_001354695.2:c.545G>T | NP_001341624.1:p.Ser182Ile | |
| NR_148940.2:n.1218G>T | ||
| NR_148941.2:n.1218G>T | ||
| NR_148942.2:n.1218G>T | ||
| NM_001354690.3:c.887G>T | NP_001341619.1:p.Ser296Ile | |
| NM_001354691.3:c.644G>T | NP_001341620.1:p.Ser215Ile | |
| NM_001354692.3:c.644G>T | NP_001341621.1:p.Ser215Ile | |
| NM_001354693.3:c.788G>T | NP_001341622.1:p.Ser263Ile | |
| NM_001354694.3:c.704G>T | NP_001341623.1:p.Ser235Ile | |
| NM_001354695.3:c.545G>T | NP_001341624.1:p.Ser182Ile | |
| NM_002880.4:c.887G>T MANE Select | NP_002871.1:p.Ser296Ile | |
| NR_148940.3:n.1218G>T | ||
| NR_148941.3:n.1218G>T | ||
| NR_148942.3:n.1218G>T |