Linked Data
ClinVar Variation Id:
1587839
dbSNP Id:
rs754344039
ExAC:
3:12632489 G / A
gnomAD v2:
3-12632489-G-A
gnomAD v3:
3-12590990-G-A
gnomAD v4:
3-12590990-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12590990G>A , CM000665.2:g.12590990G>A | GRCh38 |
| NC_000003.11:g.12632489G>A , CM000665.1:g.12632489G>A | GRCh37 |
| NC_000003.10:g.12607489G>A | NCBI36 |
| NG_007467.1:g.78190C>T , LRG_413:g.78190C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*859-16C>T | ENSP00000401088.1:n.*859-16C>T | |
| ENST00000432427.3:c.511-16C>T | ||
| ENST00000465826.6:n.785-16C>T | ||
| ENST00000475353.2:n.1116-16C>T | ||
| ENST00000494557.2:n.1005-16C>T | ||
| ENST00000684903.1:c.*871-16C>T | ENSP00000508612.1:n.*871-16C>T | |
| ENST00000685348.1:c.*871-16C>T | ENSP00000510285.1:n.*871-16C>T | |
| ENST00000685437.1:c.1095-16C>T | ENSP00000508794.1:n.1095-16C>T | |
| ENST00000685653.1:c.1194-16C>T | ENSP00000509968.1:n.1194-16C>T | |
| ENST00000685738.1:c.*158-16C>T | ENSP00000510156.1:n.*158-16C>T | |
| ENST00000686409.1:n.2245-16C>T | ||
| ENST00000686455.1:n.1557-16C>T | ||
| ENST00000686762.1:c.1194-16C>T | ENSP00000509767.1:n.1194-16C>T | |
| ENST00000687257.1:n.1430-16C>T | ||
| ENST00000687326.1:c.*128-16C>T | ENSP00000509665.1:n.*128-16C>T | |
| ENST00000687505.1:n.1312-16C>T | ||
| ENST00000687923.1:c.1083-16C>T | ENSP00000510255.1:n.1083-16C>T | |
| ENST00000687940.1:n.1571-16C>T | ||
| ENST00000688269.1:n.1790-16C>T | ||
| ENST00000688326.1:c.627-16C>T | ||
| ENST00000688444.1:n.1520-16C>T | ||
| ENST00000688543.1:c.1095-16C>T | ENSP00000509612.1:n.1095-16C>T | |
| ENST00000688625.1:c.*772-16C>T | ENSP00000509522.1:n.*772-16C>T | |
| ENST00000688803.1:n.1425-16C>T | ||
| ENST00000688914.1:n.180-16C>T | ||
| ENST00000689097.1:c.*871-16C>T | ENSP00000509756.1:n.*871-16C>T | |
| ENST00000689389.1:c.1193+718C>T | ENSP00000510213.1:n.1193+718C>T | |
| ENST00000689418.1:c.*871-16C>T | ENSP00000509467.1:n.*871-16C>T | |
| ENST00000689481.1:c.*871-16C>T | ENSP00000510248.1:n.*871-16C>T | |
| ENST00000689540.1:n.1344-16C>T | ||
| ENST00000689876.1:c.1194-16C>T | ENSP00000508535.1:n.1194-16C>T | |
| ENST00000689914.1:c.*128-16C>T | ENSP00000509847.1:n.*128-16C>T | |
| ENST00000690397.1:c.1083-16C>T | ENSP00000508730.1:n.1083-16C>T | |
| ENST00000690460.1:c.1182-16C>T | ENSP00000509106.1:n.1182-16C>T | |
| ENST00000690585.1:c.86-16C>T | ||
| ENST00000690625.1:n.2214C>T | ||
| ENST00000691396.1:c.*1046-16C>T | ENSP00000510712.1:n.*1046-16C>T | |
| ENST00000691724.1:c.*151-16C>T | ENSP00000509255.1:n.*151-16C>T | |
| ENST00000691779.1:c.*772-16C>T | ENSP00000508592.1:n.*772-16C>T | |
| ENST00000691888.1:c.86-16C>T | ||
| ENST00000691899.1:c.1194-16C>T | ENSP00000508763.1:n.1194-16C>T | |
| ENST00000692069.1:n.1760-16C>T | ||
| ENST00000692093.1:c.1095-16C>T | ENSP00000509669.1:n.1095-16C>T | |
| ENST00000692311.1:n.2018-16C>T | ||
| ENST00000692558.1:n.1559-16C>T | ||
| ENST00000692773.1:c.*931-16C>T | ENSP00000509055.1:n.*931-16C>T | |
| ENST00000692830.1:c.*939-16C>T | ENSP00000509461.1:n.*939-16C>T | |
| ENST00000693069.1:c.*128-16C>T | ENSP00000510072.1:n.*128-16C>T | |
| ENST00000693312.1:c.969-16C>T | ENSP00000508686.1:n.969-16C>T | |
| ENST00000693664.1:c.1194-16C>T | ENSP00000509614.1:n.1194-16C>T | |
| ENST00000693705.1:c.*871-16C>T | ENSP00000510697.1:n.*871-16C>T | |
| ENST00000251849.9:c.1194-16C>T MANE Select | ENSP00000251849.4:n.1194-16C>T | |
| ENST00000442415.7:c.1254-16C>T | ENSP00000401888.2:n.1254-16C>T | |
| ENST00000251849.8:c.1194-16C>T | ENSP00000251849.4:n.1194-16C>T | |
| ENST00000423275.5:c.*871-16C>T | ENSP00000401088.1:n.*871-16C>T | |
| ENST00000432427.2:c.831-16C>T | ENSP00000398591.2:n.831-16C>T | |
| ENST00000442415.6:c.1254-16C>T | ENSP00000401888.2:n.1254-16C>T | |
| ENST00000460610.1:n.151-16C>T | ||
| ENST00000465826.5:n.551-16C>T | ||
| ENST00000475353.1:n.362-16C>T | ||
| ENST00000494557.1:n.210-16C>T | ||
| NM_002880.3:c.1194-16C>T , LRG_413t1:c.1194-16C>T | NP_002871.1:n.1194-16C>T | |
| XM_005265355.1:c.1194-16C>T | XP_005265412.1:n.1194-16C>T | |
| XM_005265357.1:c.1095-16C>T | XP_005265414.1:n.1095-16C>T | |
| XM_005265358.3:c.951-16C>T | XP_005265415.1:n.951-16C>T | |
| XM_005265359.3:c.852-16C>T | XP_005265416.1:n.852-16C>T | |
| XM_005265360.1:c.1194-16C>T | XP_005265417.1:n.1194-16C>T | |
| XM_011533974.1:c.1194-16C>T | XP_011532276.1:n.1194-16C>T | |
| XM_011533975.1:c.951-16C>T | XP_011532277.1:n.951-16C>T | |
| NM_001354689.1:c.1254-16C>T | NP_001341618.1:n.1254-16C>T | |
| NM_001354690.1:c.1194-16C>T | NP_001341619.1:n.1194-16C>T | |
| NM_001354691.1:c.951-16C>T | NP_001341620.1:n.951-16C>T | |
| NM_001354692.1:c.951-16C>T | NP_001341621.1:n.951-16C>T | |
| NM_001354693.1:c.1095-16C>T | NP_001341622.1:n.1095-16C>T | |
| NM_001354694.1:c.1011-16C>T | NP_001341623.1:n.1011-16C>T | |
| NM_001354695.1:c.852-16C>T | NP_001341624.1:n.852-16C>T | |
| NR_148940.1:n.1722-16C>T | ||
| NR_148941.1:n.1668-16C>T | ||
| NR_148942.1:n.1607-16C>T | ||
| XM_011533974.3:c.1194-16C>T | XP_011532276.1:n.1194-16C>T | |
| XM_017006966.1:c.1095-16C>T | XP_016862455.1:n.1095-16C>T | |
| XR_001740227.1:n.1485-16C>T | ||
| NM_001354689.3:c.1254-16C>T | NP_001341618.1:n.1254-16C>T | |
| NM_001354690.2:c.1194-16C>T | NP_001341619.1:n.1194-16C>T | |
| NM_001354691.2:c.951-16C>T | NP_001341620.1:n.951-16C>T | |
| NM_001354692.2:c.951-16C>T | NP_001341621.1:n.951-16C>T | |
| NM_001354693.2:c.1095-16C>T | NP_001341622.1:n.1095-16C>T | |
| NM_001354694.2:c.1011-16C>T | NP_001341623.1:n.1011-16C>T | |
| NM_001354695.2:c.852-16C>T | NP_001341624.1:n.852-16C>T | |
| NR_148940.2:n.1638-16C>T | ||
| NR_148941.2:n.1584-16C>T | ||
| NR_148942.2:n.1523-16C>T | ||
| NM_001354690.3:c.1194-16C>T | NP_001341619.1:n.1194-16C>T | |
| NM_001354691.3:c.951-16C>T | NP_001341620.1:n.951-16C>T | |
| NM_001354692.3:c.951-16C>T | NP_001341621.1:n.951-16C>T | |
| NM_001354693.3:c.1095-16C>T | NP_001341622.1:n.1095-16C>T | |
| NM_001354694.3:c.1011-16C>T | NP_001341623.1:n.1011-16C>T | |
| NM_001354695.3:c.852-16C>T | NP_001341624.1:n.852-16C>T | |
| NM_002880.4:c.1194-16C>T MANE Select | NP_002871.1:n.1194-16C>T | |
| NR_148940.3:n.1638-16C>T | ||
| NR_148941.3:n.1584-16C>T | ||
| NR_148942.3:n.1523-16C>T |