Linked Data
ClinVar Variation Id:
1334269
dbSNP Id:
rs1183645997
gnomAD v2:
3-12641743-G-T
gnomAD v3:
3-12600244-G-T
gnomAD v4:
3-12600244-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12600244G>T , CM000665.2:g.12600244G>T | GRCh38 |
| NC_000003.11:g.12641743G>T , CM000665.1:g.12641743G>T | GRCh37 |
| NC_000003.10:g.12616743G>T | NCBI36 |
| NG_007467.1:g.68936C>A , LRG_413:g.68936C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*563C>A | ENSP00000401088.1:n.*563C>A | |
| ENST00000432427.3:c.218C>A | ||
| ENST00000465826.6:n.489C>A | ||
| ENST00000491290.2:n.1275C>A | ||
| ENST00000684903.1:c.*575C>A | ENSP00000508612.1:n.*575C>A | |
| ENST00000685348.1:c.*575C>A | ENSP00000510285.1:n.*575C>A | |
| ENST00000685437.1:c.799C>A | ENSP00000508794.1:p.Leu267Met | |
| ENST00000685438.1:n.662C>A | ||
| ENST00000685653.1:c.898C>A | ENSP00000509968.1:p.Leu300Met | |
| ENST00000685738.1:c.898C>A | ENSP00000510156.1:p.Leu300Met | |
| ENST00000686409.1:n.1606C>A | ||
| ENST00000686455.1:n.1261C>A | ||
| ENST00000686479.1:n.1269C>A | ||
| ENST00000686762.1:c.898C>A | ENSP00000509767.1:p.Leu300Met | |
| ENST00000687257.1:n.1134C>A | ||
| ENST00000687326.1:c.898C>A | ENSP00000509665.1:p.Leu300Met | |
| ENST00000687486.1:c.182+144C>A | ||
| ENST00000687505.1:n.1016C>A | ||
| ENST00000687923.1:c.799C>A | ENSP00000510255.1:p.Leu267Met | |
| ENST00000687940.1:n.1275C>A | ||
| ENST00000688269.1:n.1494C>A | ||
| ENST00000688326.1:c.218C>A | ||
| ENST00000688444.1:n.1224C>A | ||
| ENST00000688543.1:c.799C>A | ENSP00000509612.1:p.Leu267Met | |
| ENST00000688625.1:c.*476C>A | ENSP00000509522.1:n.*476C>A | |
| ENST00000688803.1:n.1129C>A | ||
| ENST00000689097.1:c.*575C>A | ENSP00000509756.1:n.*575C>A | |
| ENST00000689389.1:c.898C>A | ENSP00000510213.1:p.Leu300Met | |
| ENST00000689418.1:c.*575C>A | ENSP00000509467.1:n.*575C>A | |
| ENST00000689481.1:c.*575C>A | ENSP00000510248.1:n.*575C>A | |
| ENST00000689540.1:n.1048C>A | ||
| ENST00000689876.1:c.898C>A | ENSP00000508535.1:p.Leu300Met | |
| ENST00000689914.1:c.898C>A | ENSP00000509847.1:p.Leu300Met | |
| ENST00000690397.1:c.787C>A | ENSP00000508730.1:p.Leu263Met | |
| ENST00000690460.1:c.886C>A | ENSP00000509106.1:p.Leu296Met | |
| ENST00000690625.1:n.1201C>A | ||
| ENST00000691268.1:c.325C>A | ||
| ENST00000691396.1:c.*691C>A | ENSP00000510712.1:n.*691C>A | |
| ENST00000691724.1:c.898C>A | ENSP00000509255.1:p.Leu300Met | |
| ENST00000691779.1:c.*476C>A | ENSP00000508592.1:n.*476C>A | |
| ENST00000691899.1:c.898C>A | ENSP00000508763.1:p.Leu300Met | |
| ENST00000692069.1:n.1121C>A | ||
| ENST00000692093.1:c.799C>A | ENSP00000509669.1:p.Leu267Met | |
| ENST00000692311.1:n.1379C>A | ||
| ENST00000692558.1:n.1263C>A | ||
| ENST00000692773.1:c.*635C>A | ENSP00000509055.1:n.*635C>A | |
| ENST00000692830.1:c.*643C>A | ENSP00000509461.1:n.*643C>A | |
| ENST00000693069.1:c.799C>A | ENSP00000510072.1:p.Leu267Met | |
| ENST00000693312.1:c.673C>A | ENSP00000508686.1:p.Leu225Met | |
| ENST00000693664.1:c.898C>A | ENSP00000509614.1:p.Leu300Met | |
| ENST00000693705.1:c.*575C>A | ENSP00000510697.1:n.*575C>A | |
| ENST00000251849.9:c.898C>A MANE Select | ENSP00000251849.4:p.Leu300Met | |
| ENST00000442415.7:c.958C>A | ENSP00000401888.2:p.Leu320Met | |
| ENST00000251849.8:c.898C>A | ENSP00000251849.4:p.Leu300Met | |
| ENST00000423275.5:c.*575C>A | ENSP00000401088.1:n.*575C>A | |
| ENST00000432427.2:c.535C>A | ENSP00000398591.2:p.Leu179Met | |
| ENST00000442415.6:c.958C>A | ENSP00000401888.2:p.Leu320Met | |
| ENST00000465826.5:n.142C>A | ||
| ENST00000491290.1:n.527C>A | ||
| NM_002880.3:c.898C>A , LRG_413t1:c.898C>A | NP_002871.1:p.Leu300Met | |
| XM_005265355.1:c.898C>A | XP_005265412.1:p.Leu300Met | |
| XM_005265357.1:c.799C>A | XP_005265414.1:p.Leu267Met | |
| XM_005265358.3:c.655C>A | XP_005265415.1:p.Leu219Met | |
| XM_005265359.3:c.556C>A | XP_005265416.1:p.Leu186Met | |
| XM_005265360.1:c.898C>A | XP_005265417.1:p.Leu300Met | |
| XM_011533974.1:c.898C>A | XP_011532276.1:p.Leu300Met | |
| XM_011533975.1:c.655C>A | XP_011532277.1:p.Leu219Met | |
| NM_001354689.1:c.958C>A | NP_001341618.1:p.Leu320Met | |
| NM_001354690.1:c.898C>A | NP_001341619.1:p.Leu300Met | |
| NM_001354691.1:c.655C>A | NP_001341620.1:p.Leu219Met | |
| NM_001354692.1:c.655C>A | NP_001341621.1:p.Leu219Met | |
| NM_001354693.1:c.799C>A | NP_001341622.1:p.Leu267Met | |
| NM_001354694.1:c.715C>A | NP_001341623.1:p.Leu239Met | |
| NM_001354695.1:c.556C>A | NP_001341624.1:p.Leu186Met | |
| NR_148940.1:n.1313C>A | ||
| NR_148941.1:n.1313C>A | ||
| NR_148942.1:n.1313C>A | ||
| XM_011533974.3:c.898C>A | XP_011532276.1:p.Leu300Met | |
| XM_017006966.1:c.799C>A | XP_016862455.1:p.Leu267Met | |
| XR_001740227.1:n.1130C>A | ||
| NM_001354689.3:c.958C>A | NP_001341618.1:p.Leu320Met | |
| NM_001354690.2:c.898C>A | NP_001341619.1:p.Leu300Met | |
| NM_001354691.2:c.655C>A | NP_001341620.1:p.Leu219Met | |
| NM_001354692.2:c.655C>A | NP_001341621.1:p.Leu219Met | |
| NM_001354693.2:c.799C>A | NP_001341622.1:p.Leu267Met | |
| NM_001354694.2:c.715C>A | NP_001341623.1:p.Leu239Met | |
| NM_001354695.2:c.556C>A | NP_001341624.1:p.Leu186Met | |
| NR_148940.2:n.1229C>A | ||
| NR_148941.2:n.1229C>A | ||
| NR_148942.2:n.1229C>A | ||
| NM_001354690.3:c.898C>A | NP_001341619.1:p.Leu300Met | |
| NM_001354691.3:c.655C>A | NP_001341620.1:p.Leu219Met | |
| NM_001354692.3:c.655C>A | NP_001341621.1:p.Leu219Met | |
| NM_001354693.3:c.799C>A | NP_001341622.1:p.Leu267Met | |
| NM_001354694.3:c.715C>A | NP_001341623.1:p.Leu239Met | |
| NM_001354695.3:c.556C>A | NP_001341624.1:p.Leu186Met | |
| NM_002880.4:c.898C>A MANE Select | NP_002871.1:p.Leu300Met | |
| NR_148940.3:n.1229C>A | ||
| NR_148941.3:n.1229C>A | ||
| NR_148942.3:n.1229C>A |