Linked Data
ClinVar Variation Id:
180781
dbSNP Id:
rs730880411
ExAC:
7:140453203 A / C
gnomAD v2:
7-140453203-A-C
gnomAD v4:
7-140753403-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140753403A>C , CM000669.2:g.140753403A>C | GRCh38 |
| NC_000007.13:g.140453203A>C , CM000669.1:g.140453203A>C | GRCh37 |
| NC_000007.12:g.140099672A>C | NCBI36 |
| NG_007873.3:g.176362T>G , LRG_299:g.176362T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646891.2:c.1742-10T>G MANE Select | ENSP00000493543.1:n.1742-10T>G | |
| ENST00000288602.11:c.1862-10T>G | ENSP00000288602.7:n.1862-10T>G | |
| ENST00000479537.6:c.412-10T>G | ||
| ENST00000496384.7:c.1742-10T>G | ENSP00000419060.2:n.1742-10T>G | |
| ENST00000497784.2:c.*1192-10T>G | ENSP00000420119.2:n.*1192-10T>G | |
| ENST00000642228.1:c.*820-10T>G | ENSP00000493678.1:n.*820-10T>G | |
| ENST00000642875.1:n.1259-3985T>G | ||
| ENST00000644120.1:n.2132-10T>G | ||
| ENST00000644650.1:c.838-10T>G | ||
| ENST00000644905.1:n.2614T>G | ||
| ENST00000644969.2:c.1862-10T>G MANE Plus Clinical | ENSP00000496776.1:n.1862-10T>G | |
| ENST00000646730.1:c.*318-10T>G | ENSP00000494784.1:n.*318-10T>G | |
| ENST00000646891.1:c.1742-10T>G | ENSP00000493543.1:n.1742-10T>G | |
| ENST00000647434.1:c.738-3985T>G | ENSP00000495132.1:n.738-3985T>G | |
| ENST00000288602.10:c.1742-10T>G | ENSP00000288602.6:n.1742-10T>G | |
| ENST00000479537.5:c.26-10T>G | ENSP00000418033.1:n.26-10T>G | |
| ENST00000496384.6:c.565-10T>G | ||
| ENST00000497784.1:c.1777-10T>G | ENSP00000420119.1:n.1777-10T>G | |
| NM_004333.4:c.1742-10T>G , LRG_299t1:c.1742-10T>G | NP_004324.2:n.1742-10T>G | |
| XM_005250045.1:c.1742-10T>G | XP_005250102.1:n.1742-10T>G | |
| XM_005250046.1:c.1742-10T>G | XP_005250103.1:n.1742-10T>G | |
| XM_011516529.1:c.1742-10T>G | XP_011514831.1:n.1742-10T>G | |
| XM_011516530.1:c.1695-3985T>G | XP_011514832.1:n.1695-3985T>G | |
| XR_242190.1:n.1750-10T>G | ||
| XR_927520.1:n.1750-10T>G | ||
| XR_927521.1:n.1750-10T>G | ||
| XR_927522.1:n.1703-3985T>G | ||
| XR_927523.1:n.1703-3985T>G | ||
| NM_001354609.1:c.1742-10T>G | NP_001341538.1:n.1742-10T>G | |
| NM_004333.5:c.1742-10T>G | NP_004324.2:n.1742-10T>G | |
| NR_148928.1:n.2830T>G | ||
| XM_017012558.1:c.1862-10T>G | XP_016868047.1:n.1862-10T>G | |
| XM_017012559.1:c.1862-10T>G | XP_016868048.1:n.1862-10T>G | |
| XR_001744857.1:n.1870-10T>G | ||
| XR_001744858.1:n.1823-3985T>G | ||
| NM_001354609.2:c.1742-10T>G | NP_001341538.1:n.1742-10T>G | |
| NM_001374244.1:c.1862-10T>G | NP_001361173.1:n.1862-10T>G | |
| NM_001374258.1:c.1862-10T>G MANE Plus Clinical | NP_001361187.1:n.1862-10T>G | |
| NM_004333.6:c.1742-10T>G MANE Select | NP_004324.2:n.1742-10T>G | |
| NM_001378467.1:c.1751-10T>G | NP_001365396.1:n.1751-10T>G | |
| NM_001378468.1:c.1742-10T>G | NP_001365397.1:n.1742-10T>G | |
| NM_001378469.1:c.1676-10T>G | NP_001365398.1:n.1676-10T>G | |
| NM_001378470.1:c.1640-10T>G | NP_001365399.1:n.1640-10T>G | |
| NM_001378471.1:c.1631-10T>G | NP_001365400.1:n.1631-10T>G | |
| NM_001378472.1:c.1586-10T>G | NP_001365401.1:n.1586-10T>G | |
| NM_001378473.1:c.1586-10T>G | NP_001365402.1:n.1586-10T>G | |
| NM_001378474.1:c.1742-10T>G | NP_001365403.1:n.1742-10T>G | |
| NM_001378475.1:c.1478-10T>G | NP_001365404.1:n.1478-10T>G |