Linked Data
ClinVar Variation Id:
180718
dbSNP Id:
rs146668293
ExAC:
3:12633287 A / G
gnomAD v2:
3-12633287-A-G
gnomAD v3:
3-12591788-A-G
gnomAD v4:
3-12591788-A-G
ERepo:
CA235339/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12591788A>G , CM000665.2:g.12591788A>G | GRCh38 |
| NC_000003.11:g.12633287A>G , CM000665.1:g.12633287A>G | GRCh37 |
| NC_000003.10:g.12608287A>G | NCBI36 |
| NG_007467.1:g.77392T>C , LRG_413:g.77392T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*778T>C | ENSP00000401088.1:n.*778T>C | |
| ENST00000432427.3:c.430T>C | ||
| ENST00000465826.6:n.704T>C | ||
| ENST00000475353.2:n.1035T>C | ||
| ENST00000491290.2:n.1486-13T>C | ||
| ENST00000494557.2:n.924T>C | ||
| ENST00000684903.1:c.*790T>C | ENSP00000508612.1:n.*790T>C | |
| ENST00000685348.1:c.*790T>C | ENSP00000510285.1:n.*790T>C | |
| ENST00000685437.1:c.1014T>C | ENSP00000508794.1:p.Asp338= | |
| ENST00000685653.1:c.1113T>C | ENSP00000509968.1:p.Asp371= | |
| ENST00000685738.1:c.*77T>C | ENSP00000510156.1:n.*77T>C | |
| ENST00000686409.1:n.2164T>C | ||
| ENST00000686455.1:n.1476T>C | ||
| ENST00000686762.1:c.1113T>C | ENSP00000509767.1:p.Asp371= | |
| ENST00000687257.1:n.1349T>C | ||
| ENST00000687326.1:c.*47T>C | ENSP00000509665.1:n.*47T>C | |
| ENST00000687486.1:c.305T>C | ||
| ENST00000687505.1:n.1231T>C | ||
| ENST00000687923.1:c.1002T>C | ENSP00000510255.1:p.Asp334= | |
| ENST00000687940.1:n.1490T>C | ||
| ENST00000688269.1:n.1709T>C | ||
| ENST00000688326.1:c.546T>C | ||
| ENST00000688444.1:n.1439T>C | ||
| ENST00000688543.1:c.1014T>C | ENSP00000509612.1:p.Asp338= | |
| ENST00000688625.1:c.*691T>C | ENSP00000509522.1:n.*691T>C | |
| ENST00000688803.1:n.1344T>C | ||
| ENST00000688914.1:n.99T>C | ||
| ENST00000689097.1:c.*790T>C | ENSP00000509756.1:n.*790T>C | |
| ENST00000689389.1:c.1113T>C | ENSP00000510213.1:p.Asp371= | |
| ENST00000689418.1:c.*790T>C | ENSP00000509467.1:n.*790T>C | |
| ENST00000689481.1:c.*790T>C | ENSP00000510248.1:n.*790T>C | |
| ENST00000689540.1:n.1263T>C | ||
| ENST00000689876.1:c.1113T>C | ENSP00000508535.1:p.Asp371= | |
| ENST00000689914.1:c.*47T>C | ENSP00000509847.1:n.*47T>C | |
| ENST00000690397.1:c.1002T>C | ENSP00000508730.1:p.Asp334= | |
| ENST00000690460.1:c.1101T>C | ENSP00000509106.1:p.Asp367= | |
| ENST00000690585.1:c.5T>C | ||
| ENST00000690625.1:n.1416T>C | ||
| ENST00000691396.1:c.*965T>C | ENSP00000510712.1:n.*965T>C | |
| ENST00000691724.1:c.*70T>C | ENSP00000509255.1:n.*70T>C | |
| ENST00000691779.1:c.*691T>C | ENSP00000508592.1:n.*691T>C | |
| ENST00000691888.1:c.5T>C | ||
| ENST00000691899.1:c.1113T>C | ENSP00000508763.1:p.Asp371= | |
| ENST00000692069.1:n.1679T>C | ||
| ENST00000692093.1:c.1014T>C | ENSP00000509669.1:p.Asp338= | |
| ENST00000692311.1:n.1937T>C | ||
| ENST00000692558.1:n.1478T>C | ||
| ENST00000692773.1:c.*850T>C | ENSP00000509055.1:n.*850T>C | |
| ENST00000692830.1:c.*858T>C | ENSP00000509461.1:n.*858T>C | |
| ENST00000693069.1:c.*47T>C | ENSP00000510072.1:n.*47T>C | |
| ENST00000693312.1:c.888T>C | ENSP00000508686.1:p.Asp296= | |
| ENST00000693664.1:c.1113T>C | ENSP00000509614.1:p.Asp371= | |
| ENST00000693705.1:c.*790T>C | ENSP00000510697.1:n.*790T>C | |
| ENST00000251849.9:c.1113T>C MANE Select | ENSP00000251849.4:p.Asp371= | |
| ENST00000442415.7:c.1173T>C | ENSP00000401888.2:p.Asp391= | |
| ENST00000251849.8:c.1113T>C | ENSP00000251849.4:p.Asp371= | |
| ENST00000423275.5:c.*790T>C | ENSP00000401088.1:n.*790T>C | |
| ENST00000432427.2:c.750T>C | ENSP00000398591.2:p.Asp250= | |
| ENST00000442415.6:c.1173T>C | ENSP00000401888.2:p.Asp391= | |
| ENST00000460610.1:n.70T>C | ||
| ENST00000465826.5:n.470T>C | ||
| ENST00000475353.1:n.281T>C | ||
| ENST00000494557.1:n.129T>C | ||
| NM_002880.3:c.1113T>C , LRG_413t1:c.1113T>C | NP_002871.1:p.Asp371= | |
| XM_005265355.1:c.1113T>C | XP_005265412.1:p.Asp371= | |
| XM_005265357.1:c.1014T>C | XP_005265414.1:p.Asp338= | |
| XM_005265358.3:c.870T>C | XP_005265415.1:p.Asp290= | |
| XM_005265359.3:c.771T>C | XP_005265416.1:p.Asp257= | |
| XM_005265360.1:c.1113T>C | XP_005265417.1:p.Asp371= | |
| XM_011533974.1:c.1113T>C | XP_011532276.1:p.Asp371= | |
| XM_011533975.1:c.870T>C | XP_011532277.1:p.Asp290= | |
| NM_001354689.1:c.1173T>C | NP_001341618.1:p.Asp391= | |
| NM_001354690.1:c.1113T>C | NP_001341619.1:p.Asp371= | |
| NM_001354691.1:c.870T>C | NP_001341620.1:p.Asp290= | |
| NM_001354692.1:c.870T>C | NP_001341621.1:p.Asp290= | |
| NM_001354693.1:c.1014T>C | NP_001341622.1:p.Asp338= | |
| NM_001354694.1:c.930T>C | NP_001341623.1:p.Asp310= | |
| NM_001354695.1:c.771T>C | NP_001341624.1:p.Asp257= | |
| NR_148940.1:n.1641T>C | ||
| NR_148941.1:n.1587T>C | ||
| NR_148942.1:n.1526T>C | ||
| XM_011533974.3:c.1113T>C | XP_011532276.1:p.Asp371= | |
| XM_017006966.1:c.1014T>C | XP_016862455.1:p.Asp338= | |
| XR_001740227.1:n.1404T>C | ||
| NM_001354689.3:c.1173T>C | NP_001341618.1:p.Asp391= | |
| NM_001354690.2:c.1113T>C | NP_001341619.1:p.Asp371= | |
| NM_001354691.2:c.870T>C | NP_001341620.1:p.Asp290= | |
| NM_001354692.2:c.870T>C | NP_001341621.1:p.Asp290= | |
| NM_001354693.2:c.1014T>C | NP_001341622.1:p.Asp338= | |
| NM_001354694.2:c.930T>C | NP_001341623.1:p.Asp310= | |
| NM_001354695.2:c.771T>C | NP_001341624.1:p.Asp257= | |
| NR_148940.2:n.1557T>C | ||
| NR_148941.2:n.1503T>C | ||
| NR_148942.2:n.1442T>C | ||
| NM_001354690.3:c.1113T>C | NP_001341619.1:p.Asp371= | |
| NM_001354691.3:c.870T>C | NP_001341620.1:p.Asp290= | |
| NM_001354692.3:c.870T>C | NP_001341621.1:p.Asp290= | |
| NM_001354693.3:c.1014T>C | NP_001341622.1:p.Asp338= | |
| NM_001354694.3:c.930T>C | NP_001341623.1:p.Asp310= | |
| NM_001354695.3:c.771T>C | NP_001341624.1:p.Asp257= | |
| NM_002880.4:c.1113T>C MANE Select | NP_002871.1:p.Asp371= | |
| NR_148940.3:n.1557T>C | ||
| NR_148941.3:n.1503T>C | ||
| NR_148942.3:n.1442T>C |