Linked Data
ClinVar Variation Id:
41447
ClinVar RCV Id:
RCV000157707
RCV000034333
RCV001159454
RCV002477052
RCV000590004
RCV001159455
RCV003944872
dbSNP Id:
rs371976102
ExAC:
7:140439609 T / C
gnomAD v2:
7-140439609-T-C
gnomAD v3:
7-140739809-T-C
gnomAD v4:
7-140739809-T-C
ERepo:
CA130842/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140739809T>C , CM000669.2:g.140739809T>C | GRCh38 |
| NC_000007.13:g.140439609T>C , CM000669.1:g.140439609T>C | GRCh37 |
| NC_000007.12:g.140086078T>C | NCBI36 |
| NG_007873.3:g.189956A>G , LRG_299:g.189956A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646891.2:c.2127+3A>G MANE Select | ENSP00000493543.1:n.2127+3A>G | |
| ENST00000288602.11:c.2247+3A>G | ENSP00000288602.7:n.2247+3A>G | |
| ENST00000479537.6:c.879+3A>G | ||
| ENST00000496384.7:c.2127+3A>G | ENSP00000419060.2:n.2127+3A>G | |
| ENST00000497784.2:c.*1577+3A>G | ENSP00000420119.2:n.*1577+3A>G | |
| ENST00000642228.1:c.*1205+3A>G | ENSP00000493678.1:n.*1205+3A>G | |
| ENST00000642875.1:n.1525+3A>G | ||
| ENST00000644120.1:n.2517+3A>G | ||
| ENST00000644650.1:c.1426+3A>G | ||
| ENST00000644905.1:n.3009+3A>G | ||
| ENST00000644969.2:c.2247+3A>G MANE Plus Clinical | ENSP00000496776.1:n.2247+3A>G | |
| ENST00000645443.1:n.1906+3A>G | ||
| ENST00000646730.1:c.*785+3A>G | ENSP00000494784.1:n.*785+3A>G | |
| ENST00000646891.1:c.2127+3A>G | ENSP00000493543.1:n.2127+3A>G | |
| ENST00000647434.1:c.1004+3A>G | ENSP00000495132.1:n.1004+3A>G | |
| ENST00000288602.10:c.2127+3A>G | ENSP00000288602.6:n.2127+3A>G | |
| ENST00000479537.5:c.493+3A>G | ENSP00000418033.1:n.493+3A>G | |
| ENST00000496384.6:c.950+3A>G | ||
| ENST00000497784.1:c.2162+3A>G | ENSP00000420119.1:n.2162+3A>G | |
| NM_004333.4:c.2127+3A>G , LRG_299t1:c.2127+3A>G | NP_004324.2:n.2127+3A>G | |
| XM_005250045.1:c.2127+3A>G | XP_005250102.1:n.2127+3A>G | |
| XM_005250046.1:c.2127+3A>G | XP_005250103.1:n.2127+3A>G | |
| XM_011516529.1:c.2127+3A>G | XP_011514831.1:n.2127+3A>G | |
| XR_242190.1:n.2217+3A>G | ||
| XR_927520.1:n.2256+3A>G | ||
| XR_927521.1:n.2338+3A>G | ||
| XR_927522.1:n.1969+3A>G | ||
| XR_927523.1:n.2051+3A>G | ||
| NM_001354609.1:c.2127+3A>G | NP_001341538.1:n.2127+3A>G | |
| NM_004333.5:c.2127+3A>G | NP_004324.2:n.2127+3A>G | |
| NR_148928.1:n.3225+3A>G | ||
| XM_017012558.1:c.2247+3A>G | XP_016868047.1:n.2247+3A>G | |
| XM_017012559.1:c.2247+3A>G | XP_016868048.1:n.2247+3A>G | |
| XR_001744857.1:n.2337+3A>G | ||
| XR_001744858.1:n.2089+3A>G | ||
| NM_001354609.2:c.2127+3A>G | NP_001341538.1:n.2127+3A>G | |
| NM_001374244.1:c.2247+3A>G | NP_001361173.1:n.2247+3A>G | |
| NM_001374258.1:c.2247+3A>G MANE Plus Clinical | NP_001361187.1:n.2247+3A>G | |
| NM_004333.6:c.2127+3A>G MANE Select | NP_004324.2:n.2127+3A>G | |
| NM_001378467.1:c.2136+3A>G | NP_001365396.1:n.2136+3A>G | |
| NM_001378468.1:c.2127+3A>G | NP_001365397.1:n.2127+3A>G | |
| NM_001378469.1:c.2061+3A>G | NP_001365398.1:n.2061+3A>G | |
| NM_001378470.1:c.2025+3A>G | NP_001365399.1:n.2025+3A>G | |
| NM_001378471.1:c.2016+3A>G | NP_001365400.1:n.2016+3A>G | |
| NM_001378472.1:c.1971+3A>G | NP_001365401.1:n.1971+3A>G | |
| NM_001378473.1:c.1971+3A>G | NP_001365402.1:n.1971+3A>G | |
| NM_001378474.1:c.2127+3A>G | NP_001365403.1:n.2127+3A>G | |
| NM_001378475.1:c.1863+3A>G | NP_001365404.1:n.1863+3A>G |