Linked Data
ClinVar Variation Id:
40609
ClinVar RCV Id:
RCV000037710
RCV000233051
RCV000266115
RCV000318996
RCV000590617
RCV001813269
RCV002371809
RCV004541064
dbSNP Id:
rs5746219
ExAC:
3:12641732 T / G
gnomAD v2:
3-12641732-T-G
gnomAD v3:
3-12600233-T-G
gnomAD v4:
3-12600233-T-G
ERepo:
CA134759/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12600233T>G , CM000665.2:g.12600233T>G | GRCh38 |
| NC_000003.11:g.12641732T>G , CM000665.1:g.12641732T>G | GRCh37 |
| NC_000003.10:g.12616732T>G | NCBI36 |
| NG_007467.1:g.68947A>C , LRG_413:g.68947A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*574A>C | ENSP00000401088.1:n.*574A>C | |
| ENST00000432427.3:c.229A>C | ||
| ENST00000465826.6:n.500A>C | ||
| ENST00000491290.2:n.1286A>C | ||
| ENST00000684903.1:c.*586A>C | ENSP00000508612.1:n.*586A>C | |
| ENST00000685348.1:c.*586A>C | ENSP00000510285.1:n.*586A>C | |
| ENST00000685437.1:c.810A>C | ENSP00000508794.1:p.Thr270= | |
| ENST00000685438.1:n.673A>C | ||
| ENST00000685653.1:c.909A>C | ENSP00000509968.1:p.Thr303= | |
| ENST00000685738.1:c.909A>C | ENSP00000510156.1:p.Thr303= | |
| ENST00000686409.1:n.1617A>C | ||
| ENST00000686455.1:n.1272A>C | ||
| ENST00000686479.1:n.1280A>C | ||
| ENST00000686762.1:c.909A>C | ENSP00000509767.1:p.Thr303= | |
| ENST00000687257.1:n.1145A>C | ||
| ENST00000687326.1:c.909A>C | ENSP00000509665.1:p.Thr303= | |
| ENST00000687486.1:c.182+155A>C | ||
| ENST00000687505.1:n.1027A>C | ||
| ENST00000687923.1:c.810A>C | ENSP00000510255.1:p.Thr270= | |
| ENST00000687940.1:n.1286A>C | ||
| ENST00000688269.1:n.1505A>C | ||
| ENST00000688326.1:c.229A>C | ||
| ENST00000688444.1:n.1235A>C | ||
| ENST00000688543.1:c.810A>C | ENSP00000509612.1:p.Thr270= | |
| ENST00000688625.1:c.*487A>C | ENSP00000509522.1:n.*487A>C | |
| ENST00000688803.1:n.1140A>C | ||
| ENST00000689097.1:c.*586A>C | ENSP00000509756.1:n.*586A>C | |
| ENST00000689389.1:c.909A>C | ENSP00000510213.1:p.Thr303= | |
| ENST00000689418.1:c.*586A>C | ENSP00000509467.1:n.*586A>C | |
| ENST00000689481.1:c.*586A>C | ENSP00000510248.1:n.*586A>C | |
| ENST00000689540.1:n.1059A>C | ||
| ENST00000689876.1:c.909A>C | ENSP00000508535.1:p.Thr303= | |
| ENST00000689914.1:c.909A>C | ENSP00000509847.1:p.Thr303= | |
| ENST00000690397.1:c.798A>C | ENSP00000508730.1:p.Thr266= | |
| ENST00000690460.1:c.897A>C | ENSP00000509106.1:p.Thr299= | |
| ENST00000690625.1:n.1212A>C | ||
| ENST00000691268.1:c.336A>C | ||
| ENST00000691396.1:c.*702A>C | ENSP00000510712.1:n.*702A>C | |
| ENST00000691724.1:c.909A>C | ENSP00000509255.1:p.Thr303= | |
| ENST00000691779.1:c.*487A>C | ENSP00000508592.1:n.*487A>C | |
| ENST00000691899.1:c.909A>C | ENSP00000508763.1:p.Thr303= | |
| ENST00000692069.1:n.1132A>C | ||
| ENST00000692093.1:c.810A>C | ENSP00000509669.1:p.Thr270= | |
| ENST00000692311.1:n.1390A>C | ||
| ENST00000692558.1:n.1274A>C | ||
| ENST00000692773.1:c.*646A>C | ENSP00000509055.1:n.*646A>C | |
| ENST00000692830.1:c.*654A>C | ENSP00000509461.1:n.*654A>C | |
| ENST00000693069.1:c.810A>C | ENSP00000510072.1:p.Thr270= | |
| ENST00000693312.1:c.684A>C | ENSP00000508686.1:p.Thr228= | |
| ENST00000693664.1:c.909A>C | ENSP00000509614.1:p.Thr303= | |
| ENST00000693705.1:c.*586A>C | ENSP00000510697.1:n.*586A>C | |
| ENST00000251849.9:c.909A>C MANE Select | ENSP00000251849.4:p.Thr303= | |
| ENST00000442415.7:c.969A>C | ENSP00000401888.2:p.Thr323= | |
| ENST00000251849.8:c.909A>C | ENSP00000251849.4:p.Thr303= | |
| ENST00000423275.5:c.*586A>C | ENSP00000401088.1:n.*586A>C | |
| ENST00000432427.2:c.546A>C | ENSP00000398591.2:p.Thr182= | |
| ENST00000442415.6:c.969A>C | ENSP00000401888.2:p.Thr323= | |
| ENST00000465826.5:n.153A>C | ||
| ENST00000491290.1:n.538A>C | ||
| NM_002880.3:c.909A>C , LRG_413t1:c.909A>C | NP_002871.1:p.Thr303= | |
| XM_005265355.1:c.909A>C | XP_005265412.1:p.Thr303= | |
| XM_005265357.1:c.810A>C | XP_005265414.1:p.Thr270= | |
| XM_005265358.3:c.666A>C | XP_005265415.1:p.Thr222= | |
| XM_005265359.3:c.567A>C | XP_005265416.1:p.Thr189= | |
| XM_005265360.1:c.909A>C | XP_005265417.1:p.Thr303= | |
| XM_011533974.1:c.909A>C | XP_011532276.1:p.Thr303= | |
| XM_011533975.1:c.666A>C | XP_011532277.1:p.Thr222= | |
| NM_001354689.1:c.969A>C | NP_001341618.1:p.Thr323= | |
| NM_001354690.1:c.909A>C | NP_001341619.1:p.Thr303= | |
| NM_001354691.1:c.666A>C | NP_001341620.1:p.Thr222= | |
| NM_001354692.1:c.666A>C | NP_001341621.1:p.Thr222= | |
| NM_001354693.1:c.810A>C | NP_001341622.1:p.Thr270= | |
| NM_001354694.1:c.726A>C | NP_001341623.1:p.Thr242= | |
| NM_001354695.1:c.567A>C | NP_001341624.1:p.Thr189= | |
| NR_148940.1:n.1324A>C | ||
| NR_148941.1:n.1324A>C | ||
| NR_148942.1:n.1324A>C | ||
| XM_011533974.3:c.909A>C | XP_011532276.1:p.Thr303= | |
| XM_017006966.1:c.810A>C | XP_016862455.1:p.Thr270= | |
| XR_001740227.1:n.1141A>C | ||
| NM_001354689.3:c.969A>C | NP_001341618.1:p.Thr323= | |
| NM_001354690.2:c.909A>C | NP_001341619.1:p.Thr303= | |
| NM_001354691.2:c.666A>C | NP_001341620.1:p.Thr222= | |
| NM_001354692.2:c.666A>C | NP_001341621.1:p.Thr222= | |
| NM_001354693.2:c.810A>C | NP_001341622.1:p.Thr270= | |
| NM_001354694.2:c.726A>C | NP_001341623.1:p.Thr242= | |
| NM_001354695.2:c.567A>C | NP_001341624.1:p.Thr189= | |
| NR_148940.2:n.1240A>C | ||
| NR_148941.2:n.1240A>C | ||
| NR_148942.2:n.1240A>C | ||
| NM_001354690.3:c.909A>C | NP_001341619.1:p.Thr303= | |
| NM_001354691.3:c.666A>C | NP_001341620.1:p.Thr222= | |
| NM_001354692.3:c.666A>C | NP_001341621.1:p.Thr222= | |
| NM_001354693.3:c.810A>C | NP_001341622.1:p.Thr270= | |
| NM_001354694.3:c.726A>C | NP_001341623.1:p.Thr242= | |
| NM_001354695.3:c.567A>C | NP_001341624.1:p.Thr189= | |
| NM_002880.4:c.909A>C MANE Select | NP_002871.1:p.Thr303= | |
| NR_148940.3:n.1240A>C | ||
| NR_148941.3:n.1240A>C | ||
| NR_148942.3:n.1240A>C |