Linked Data
ClinVar Variation Id:
44819
dbSNP Id:
rs397516898
ExAC:
7:140434580 A / G
gnomAD v2:
7-140434580-A-G
gnomAD v3:
7-140734780-A-G
gnomAD v4:
7-140734780-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140734780A>G , CM000669.2:g.140734780A>G | GRCh38 |
| NC_000007.13:g.140434580A>G , CM000669.1:g.140434580A>G | GRCh37 |
| NC_000007.12:g.140081049A>G | NCBI36 |
| NG_007873.3:g.194985T>C , LRG_299:g.194985T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646891.2:c.2128-10T>C MANE Select | ENSP00000493543.1:n.2128-10T>C | |
| ENST00000288602.11:c.2248-10T>C | ENSP00000288602.7:n.2248-10T>C | |
| ENST00000479537.6:c.880-10T>C | ||
| ENST00000496384.7:c.2128-10T>C | ENSP00000419060.2:n.2128-10T>C | |
| ENST00000497784.2:c.*1578-10T>C | ENSP00000420119.2:n.*1578-10T>C | |
| ENST00000642228.1:c.*1206-10T>C | ENSP00000493678.1:n.*1206-10T>C | |
| ENST00000642875.1:n.1526-10T>C | ||
| ENST00000644120.1:n.2517+5032T>C | ||
| ENST00000644650.1:c.1427-10T>C | ||
| ENST00000644905.1:n.3010-10T>C | ||
| ENST00000644969.2:c.2248-10T>C MANE Plus Clinical | ENSP00000496776.1:n.2248-10T>C | |
| ENST00000645443.1:n.1907-10T>C | ||
| ENST00000646730.1:c.*786-10T>C | ENSP00000494784.1:n.*786-10T>C | |
| ENST00000646891.1:c.2128-10T>C | ENSP00000493543.1:n.2128-10T>C | |
| ENST00000647434.1:c.1005-10T>C | ENSP00000495132.1:n.1005-10T>C | |
| ENST00000288602.10:c.2128-10T>C | ENSP00000288602.6:n.2128-10T>C | |
| ENST00000479537.5:c.494-10T>C | ENSP00000418033.1:n.494-10T>C | |
| ENST00000496384.6:c.951-10T>C | ||
| ENST00000497784.1:c.2163-10T>C | ENSP00000420119.1:n.2163-10T>C | |
| NM_004333.4:c.2128-10T>C , LRG_299t1:c.2128-10T>C | NP_004324.2:n.2128-10T>C | |
| XM_005250045.1:c.2128-10T>C | XP_005250102.1:n.2128-10T>C | |
| XM_005250046.1:c.2127+5032T>C | XP_005250103.1:n.2127+5032T>C | |
| XM_011516529.1:c.2127+5032T>C | XP_011514831.1:n.2127+5032T>C | |
| XR_242190.1:n.2218-10T>C | ||
| XR_927520.1:n.2257-10T>C | ||
| XR_927521.1:n.2339-10T>C | ||
| XR_927522.1:n.1970-10T>C | ||
| XR_927523.1:n.2052-10T>C | ||
| NM_001354609.1:c.2128-10T>C | NP_001341538.1:n.2128-10T>C | |
| NM_004333.5:c.2128-10T>C | NP_004324.2:n.2128-10T>C | |
| NR_148928.1:n.3226-10T>C | ||
| XM_017012558.1:c.2248-10T>C | XP_016868047.1:n.2248-10T>C | |
| XM_017012559.1:c.2247+5032T>C | XP_016868048.1:n.2247+5032T>C | |
| XR_001744857.1:n.2338-10T>C | ||
| XR_001744858.1:n.2090-10T>C | ||
| NM_001354609.2:c.2128-10T>C | NP_001341538.1:n.2128-10T>C | |
| NM_001374244.1:c.2248-10T>C | NP_001361173.1:n.2248-10T>C | |
| NM_001374258.1:c.2248-10T>C MANE Plus Clinical | NP_001361187.1:n.2248-10T>C | |
| NM_004333.6:c.2128-10T>C MANE Select | NP_004324.2:n.2128-10T>C | |
| NM_001378467.1:c.2137-10T>C | NP_001365396.1:n.2137-10T>C | |
| NM_001378468.1:c.2127+5032T>C | NP_001365397.1:n.2127+5032T>C | |
| NM_001378469.1:c.2062-10T>C | NP_001365398.1:n.2062-10T>C | |
| NM_001378470.1:c.2026-10T>C | NP_001365399.1:n.2026-10T>C | |
| NM_001378471.1:c.2017-10T>C | NP_001365400.1:n.2017-10T>C | |
| NM_001378472.1:c.1972-10T>C | NP_001365401.1:n.1972-10T>C | |
| NM_001378473.1:c.1972-10T>C | NP_001365402.1:n.1972-10T>C | |
| NM_001378474.1:c.2127+5032T>C | NP_001365403.1:n.2127+5032T>C | |
| NM_001378475.1:c.1864-10T>C | NP_001365404.1:n.1864-10T>C |