Linked Data
ClinVar Variation Id:
40613
dbSNP Id:
rs397516813
PubMed:
PMID:27479843
ERepo:
CA134687/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12599717C>G , CM000665.2:g.12599717C>G | GRCh38 |
| NC_000003.11:g.12641216C>G , CM000665.1:g.12641216C>G | GRCh37 |
| NC_000003.10:g.12616216C>G | NCBI36 |
| NG_007467.1:g.69463G>C , LRG_413:g.69463G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*747G>C | ENSP00000401088.1:n.*747G>C | |
| ENST00000432427.3:c.402G>C | ||
| ENST00000465826.6:n.673G>C | ||
| ENST00000491290.2:n.1459G>C | ||
| ENST00000684903.1:c.*759G>C | ENSP00000508612.1:n.*759G>C | |
| ENST00000685348.1:c.*759G>C | ENSP00000510285.1:n.*759G>C | |
| ENST00000685437.1:c.983G>C | ENSP00000508794.1:p.Gly328Ala | |
| ENST00000685653.1:c.1082G>C | ENSP00000509968.1:p.Gly361Ala | |
| ENST00000685738.1:c.1082G>C | ENSP00000510156.1:p.Gly361Ala | |
| ENST00000686409.1:n.2133G>C | ||
| ENST00000686455.1:n.1445G>C | ||
| ENST00000686479.1:n.1453G>C | ||
| ENST00000686762.1:c.1082G>C | ENSP00000509767.1:p.Gly361Ala | |
| ENST00000687257.1:n.1318G>C | ||
| ENST00000687326.1:c.1082G>C | ENSP00000509665.1:p.Gly361Ala | |
| ENST00000687486.1:c.274G>C | ||
| ENST00000687505.1:n.1200G>C | ||
| ENST00000687923.1:c.983G>C | ENSP00000510255.1:p.Gly328Ala | |
| ENST00000687940.1:n.1459G>C | ||
| ENST00000688269.1:n.1678G>C | ||
| ENST00000688326.1:c.402G>C | ||
| ENST00000688444.1:n.1408G>C | ||
| ENST00000688543.1:c.983G>C | ENSP00000509612.1:p.Gly328Ala | |
| ENST00000688625.1:c.*660G>C | ENSP00000509522.1:n.*660G>C | |
| ENST00000688803.1:n.1313G>C | ||
| ENST00000688914.1:n.68G>C | ||
| ENST00000689097.1:c.*759G>C | ENSP00000509756.1:n.*759G>C | |
| ENST00000689389.1:c.1082G>C | ENSP00000510213.1:p.Gly361Ala | |
| ENST00000689418.1:c.*759G>C | ENSP00000509467.1:n.*759G>C | |
| ENST00000689481.1:c.*759G>C | ENSP00000510248.1:n.*759G>C | |
| ENST00000689540.1:n.1232G>C | ||
| ENST00000689876.1:c.1082G>C | ENSP00000508535.1:p.Gly361Ala | |
| ENST00000689914.1:c.1082G>C | ENSP00000509847.1:p.Gly361Ala | |
| ENST00000690397.1:c.971G>C | ENSP00000508730.1:p.Gly324Ala | |
| ENST00000690460.1:c.1070G>C | ENSP00000509106.1:p.Gly357Ala | |
| ENST00000690625.1:n.1385G>C | ||
| ENST00000691268.1:c.509G>C | ||
| ENST00000691396.1:c.*875G>C | ENSP00000510712.1:n.*875G>C | |
| ENST00000691724.1:c.*39G>C | ENSP00000509255.1:n.*39G>C | |
| ENST00000691779.1:c.*660G>C | ENSP00000508592.1:n.*660G>C | |
| ENST00000691899.1:c.1082G>C | ENSP00000508763.1:p.Gly361Ala | |
| ENST00000692069.1:n.1648G>C | ||
| ENST00000692093.1:c.983G>C | ENSP00000509669.1:p.Gly328Ala | |
| ENST00000692311.1:n.1906G>C | ||
| ENST00000692558.1:n.1447G>C | ||
| ENST00000692773.1:c.*819G>C | ENSP00000509055.1:n.*819G>C | |
| ENST00000692830.1:c.*827G>C | ENSP00000509461.1:n.*827G>C | |
| ENST00000693069.1:c.983G>C | ENSP00000510072.1:p.Gly328Ala | |
| ENST00000693312.1:c.857G>C | ENSP00000508686.1:p.Gly286Ala | |
| ENST00000693664.1:c.1082G>C | ENSP00000509614.1:p.Gly361Ala | |
| ENST00000693705.1:c.*759G>C | ENSP00000510697.1:n.*759G>C | |
| ENST00000251849.9:c.1082G>C MANE Select | ENSP00000251849.4:p.Gly361Ala | |
| ENST00000442415.7:c.1142G>C | ENSP00000401888.2:p.Gly381Ala | |
| ENST00000251849.8:c.1082G>C | ENSP00000251849.4:p.Gly361Ala | |
| ENST00000423275.5:c.*759G>C | ENSP00000401088.1:n.*759G>C | |
| ENST00000432427.2:c.719G>C | ENSP00000398591.2:p.Gly240Ala | |
| ENST00000442415.6:c.1142G>C | ENSP00000401888.2:p.Gly381Ala | |
| ENST00000460610.1:n.39G>C | ||
| ENST00000465826.5:n.326G>C | ||
| NM_002880.3:c.1082G>C , LRG_413t1:c.1082G>C | NP_002871.1:p.Gly361Ala | |
| XM_005265355.1:c.1082G>C | XP_005265412.1:p.Gly361Ala | |
| XM_005265357.1:c.983G>C | XP_005265414.1:p.Gly328Ala | |
| XM_005265358.3:c.839G>C | XP_005265415.1:p.Gly280Ala | |
| XM_005265359.3:c.740G>C | XP_005265416.1:p.Gly247Ala | |
| XM_005265360.1:c.1082G>C | XP_005265417.1:p.Gly361Ala | |
| XM_011533974.1:c.1082G>C | XP_011532276.1:p.Gly361Ala | |
| XM_011533975.1:c.839G>C | XP_011532277.1:p.Gly280Ala | |
| NM_001354689.1:c.1142G>C | NP_001341618.1:p.Gly381Ala | |
| NM_001354690.1:c.1082G>C | NP_001341619.1:p.Gly361Ala | |
| NM_001354691.1:c.839G>C | NP_001341620.1:p.Gly280Ala | |
| NM_001354692.1:c.839G>C | NP_001341621.1:p.Gly280Ala | |
| NM_001354693.1:c.983G>C | NP_001341622.1:p.Gly328Ala | |
| NM_001354694.1:c.899G>C | NP_001341623.1:p.Gly300Ala | |
| NM_001354695.1:c.740G>C | NP_001341624.1:p.Gly247Ala | |
| NR_148940.1:n.1497G>C | ||
| NR_148941.1:n.1497G>C | ||
| NR_148942.1:n.1495G>C | ||
| XM_011533974.3:c.1082G>C | XP_011532276.1:p.Gly361Ala | |
| XM_017006966.1:c.983G>C | XP_016862455.1:p.Gly328Ala | |
| XR_001740227.1:n.1314G>C | ||
| NM_001354689.3:c.1142G>C | NP_001341618.1:p.Gly381Ala | |
| NM_001354690.2:c.1082G>C | NP_001341619.1:p.Gly361Ala | |
| NM_001354691.2:c.839G>C | NP_001341620.1:p.Gly280Ala | |
| NM_001354692.2:c.839G>C | NP_001341621.1:p.Gly280Ala | |
| NM_001354693.2:c.983G>C | NP_001341622.1:p.Gly328Ala | |
| NM_001354694.2:c.899G>C | NP_001341623.1:p.Gly300Ala | |
| NM_001354695.2:c.740G>C | NP_001341624.1:p.Gly247Ala | |
| NR_148940.2:n.1413G>C | ||
| NR_148941.2:n.1413G>C | ||
| NR_148942.2:n.1411G>C | ||
| NM_001354690.3:c.1082G>C | NP_001341619.1:p.Gly361Ala | |
| NM_001354691.3:c.839G>C | NP_001341620.1:p.Gly280Ala | |
| NM_001354692.3:c.839G>C | NP_001341621.1:p.Gly280Ala | |
| NM_001354693.3:c.983G>C | NP_001341622.1:p.Gly328Ala | |
| NM_001354694.3:c.899G>C | NP_001341623.1:p.Gly300Ala | |
| NM_001354695.3:c.740G>C | NP_001341624.1:p.Gly247Ala | |
| NM_002880.4:c.1082G>C MANE Select | NP_002871.1:p.Gly361Ala | |
| NR_148940.3:n.1413G>C | ||
| NR_148941.3:n.1413G>C | ||
| NR_148942.3:n.1411G>C |