Linked Data
ClinVar Variation Id:
561371
ClinVar RCV Id:
RCV000680661
dbSNP Id:
rs2290159
gnomAD v2:
3-12628920-G-C
gnomAD v3:
3-12587421-G-C
gnomAD v4:
3-12587421-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12587421G>C , CM000665.2:g.12587421G>C | GRCh38 |
| NC_000003.11:g.12628920G>C , CM000665.1:g.12628920G>C | GRCh37 |
| NC_000003.10:g.12603920G>C | NCBI36 |
| NG_007467.1:g.81759C>G , LRG_413:g.81759C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000423275.6:c.*1082+170C>G | ENSP00000401088.1:n.*1082+170C>G | |
| ENST00000432427.3:c.734+170C>G | ||
| ENST00000460610.2:n.3541C>G | ||
| ENST00000465826.6:n.1178C>G | ||
| ENST00000471449.2:n.227+170C>G | ||
| ENST00000475353.2:n.1509C>G | ||
| ENST00000684903.1:c.*1094+170C>G | ENSP00000508612.1:n.*1094+170C>G | |
| ENST00000685348.1:c.*1094+170C>G | ENSP00000510285.1:n.*1094+170C>G | |
| ENST00000685437.1:c.1318+170C>G | ENSP00000508794.1:n.1318+170C>G | |
| ENST00000685653.1:c.1417+170C>G | ENSP00000509968.1:n.1417+170C>G | |
| ENST00000685697.1:n.531C>G | ||
| ENST00000685738.1:c.*381+170C>G | ENSP00000510156.1:n.*381+170C>G | |
| ENST00000686409.1:n.2638C>G | ||
| ENST00000686455.1:n.1950C>G | ||
| ENST00000686762.1:c.1417+170C>G | ENSP00000509767.1:n.1417+170C>G | |
| ENST00000687257.1:n.1823C>G | ||
| ENST00000687326.1:c.*521C>G | ENSP00000509665.1:n.*521C>G | |
| ENST00000687505.1:n.1535+170C>G | ||
| ENST00000687923.1:c.1306+170C>G | ENSP00000510255.1:n.1306+170C>G | |
| ENST00000688269.1:n.2013+170C>G | ||
| ENST00000688326.1:c.1020C>G | ||
| ENST00000688444.1:n.1913C>G | ||
| ENST00000688543.1:c.1318+170C>G | ENSP00000509612.1:n.1318+170C>G | |
| ENST00000688625.1:c.*1165C>G | ENSP00000509522.1:n.*1165C>G | |
| ENST00000688803.1:n.1818C>G | ||
| ENST00000688914.1:n.403+170C>G | ||
| ENST00000689097.1:c.*1094+170C>G | ENSP00000509756.1:n.*1094+170C>G | |
| ENST00000689389.1:c.1240+170C>G | ENSP00000510213.1:n.1240+170C>G | |
| ENST00000689418.1:c.*1264C>G | ENSP00000509467.1:n.*1264C>G | |
| ENST00000689540.1:n.1737C>G | ||
| ENST00000689876.1:c.1417+170C>G | ENSP00000508535.1:n.1417+170C>G | |
| ENST00000689914.1:c.*351+170C>G | ENSP00000509847.1:n.*351+170C>G | |
| ENST00000690397.1:c.1306+170C>G | ENSP00000508730.1:n.1306+170C>G | |
| ENST00000690460.1:c.1405+170C>G | ENSP00000509106.1:n.1405+170C>G | |
| ENST00000690585.1:c.263-2168C>G | ||
| ENST00000690625.1:n.2453+170C>G | ||
| ENST00000691396.1:c.*1269+170C>G | ENSP00000510712.1:n.*1269+170C>G | |
| ENST00000691643.1:n.422C>G | ||
| ENST00000691724.1:c.*374+170C>G | ENSP00000509255.1:n.*374+170C>G | |
| ENST00000691779.1:c.*995+170C>G | ENSP00000508592.1:n.*995+170C>G | |
| ENST00000691888.1:c.309+170C>G | ||
| ENST00000691899.1:c.1417+170C>G | ENSP00000508763.1:n.1417+170C>G | |
| ENST00000692069.1:n.2153C>G | ||
| ENST00000692093.1:c.1318+170C>G | ENSP00000509669.1:n.1318+170C>G | |
| ENST00000692311.1:n.2241+170C>G | ||
| ENST00000692558.1:n.1952C>G | ||
| ENST00000692773.1:c.*1154+170C>G | ENSP00000509055.1:n.*1154+170C>G | |
| ENST00000692830.1:c.*1162+170C>G | ENSP00000509461.1:n.*1162+170C>G | |
| ENST00000693312.1:c.1192+170C>G | ENSP00000508686.1:n.1192+170C>G | |
| ENST00000693664.1:c.1417+170C>G | ENSP00000509614.1:n.1417+170C>G | |
| ENST00000693705.1:c.*1048-2440C>G | ENSP00000510697.1:n.*1048-2440C>G | |
| ENST00000251849.9:c.1417+170C>G MANE Select | ENSP00000251849.4:n.1417+170C>G | |
| ENST00000442415.7:c.1477+170C>G | ENSP00000401888.2:n.1477+170C>G | |
| ENST00000251849.8:c.1417+170C>G | ENSP00000251849.4:n.1417+170C>G | |
| ENST00000423275.5:c.*1094+170C>G | ENSP00000401088.1:n.*1094+170C>G | |
| ENST00000432427.2:c.1054+170C>G | ENSP00000398591.2:n.1054+170C>G | |
| ENST00000442415.6:c.1477+170C>G | ENSP00000401888.2:n.1477+170C>G | |
| ENST00000465826.5:n.944C>G | ||
| NM_002880.3:c.1417+170C>G , LRG_413t1:c.1417+170C>G | NP_002871.1:n.1417+170C>G | |
| XM_005265355.1:c.1417+170C>G | XP_005265412.1:n.1417+170C>G | |
| XM_005265357.1:c.1318+170C>G | XP_005265414.1:n.1318+170C>G | |
| XM_005265358.3:c.1174+170C>G | XP_005265415.1:n.1174+170C>G | |
| XM_005265359.3:c.1075+170C>G | XP_005265416.1:n.1075+170C>G | |
| XM_005265360.1:c.1417+170C>G | XP_005265417.1:n.1417+170C>G | |
| XM_011533974.1:c.1417+170C>G | XP_011532276.1:n.1417+170C>G | |
| XM_011533975.1:c.1174+170C>G | XP_011532277.1:n.1174+170C>G | |
| NM_001354689.1:c.1477+170C>G | NP_001341618.1:n.1477+170C>G | |
| NM_001354690.1:c.1417+170C>G | NP_001341619.1:n.1417+170C>G | |
| NM_001354691.1:c.1174+170C>G | NP_001341620.1:n.1174+170C>G | |
| NM_001354692.1:c.1174+170C>G | NP_001341621.1:n.1174+170C>G | |
| NM_001354693.1:c.1318+170C>G | NP_001341622.1:n.1318+170C>G | |
| NM_001354694.1:c.1234+170C>G | NP_001341623.1:n.1234+170C>G | |
| NM_001354695.1:c.1075+170C>G | NP_001341624.1:n.1075+170C>G | |
| NR_148940.1:n.1945+170C>G | ||
| NR_148941.1:n.1891+170C>G | ||
| NR_148942.1:n.1830+170C>G | ||
| XM_011533974.3:c.1417+170C>G | XP_011532276.1:n.1417+170C>G | |
| XM_017006966.1:c.1318+170C>G | XP_016862455.1:n.1318+170C>G | |
| NM_001354689.3:c.1477+170C>G | NP_001341618.1:n.1477+170C>G | |
| NM_001354690.2:c.1417+170C>G | NP_001341619.1:n.1417+170C>G | |
| NM_001354691.2:c.1174+170C>G | NP_001341620.1:n.1174+170C>G | |
| NM_001354692.2:c.1174+170C>G | NP_001341621.1:n.1174+170C>G | |
| NM_001354693.2:c.1318+170C>G | NP_001341622.1:n.1318+170C>G | |
| NM_001354694.2:c.1234+170C>G | NP_001341623.1:n.1234+170C>G | |
| NM_001354695.2:c.1075+170C>G | NP_001341624.1:n.1075+170C>G | |
| NR_148940.2:n.1861+170C>G | ||
| NR_148941.2:n.1807+170C>G | ||
| NR_148942.2:n.1746+170C>G | ||
| NM_001354690.3:c.1417+170C>G | NP_001341619.1:n.1417+170C>G | |
| NM_001354691.3:c.1174+170C>G | NP_001341620.1:n.1174+170C>G | |
| NM_001354692.3:c.1174+170C>G | NP_001341621.1:n.1174+170C>G | |
| NM_001354693.3:c.1318+170C>G | NP_001341622.1:n.1318+170C>G | |
| NM_001354694.3:c.1234+170C>G | NP_001341623.1:n.1234+170C>G | |
| NM_001354695.3:c.1075+170C>G | NP_001341624.1:n.1075+170C>G | |
| NM_002880.4:c.1417+170C>G MANE Select | NP_002871.1:n.1417+170C>G | |
| NR_148940.3:n.1861+170C>G | ||
| NR_148941.3:n.1807+170C>G | ||
| NR_148942.3:n.1746+170C>G |