Linked Data
ClinVar Variation Id:
1895700
ClinVar RCV Id:
RCV002569528
dbSNP Id:
rs563382605
ExAC:
7:140454049 T / A
gnomAD v2:
7-140454049-T-A
gnomAD v3:
7-140754249-T-A
gnomAD v4:
7-140754249-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140754249T>A , CM000669.2:g.140754249T>A | GRCh38 |
| NC_000007.13:g.140454049T>A , CM000669.1:g.140454049T>A | GRCh37 |
| NC_000007.12:g.140100518T>A | NCBI36 |
| NG_007873.3:g.175516A>T , LRG_299:g.175516A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646891.2:c.1695-16A>T MANE Select | ENSP00000493543.1:n.1695-16A>T | |
| ENST00000288602.11:c.1815-16A>T | ENSP00000288602.7:n.1815-16A>T | |
| ENST00000479537.6:c.365-16A>T | ||
| ENST00000496384.7:c.1695-16A>T | ENSP00000419060.2:n.1695-16A>T | |
| ENST00000497784.2:c.*1145-16A>T | ENSP00000420119.2:n.*1145-16A>T | |
| ENST00000642228.1:c.*773-16A>T | ENSP00000493678.1:n.*773-16A>T | |
| ENST00000642875.1:n.1259-4831A>T | ||
| ENST00000644120.1:n.2085-16A>T | ||
| ENST00000644650.1:c.791-16A>T | ||
| ENST00000644905.1:n.1784-16A>T | ||
| ENST00000644969.2:c.1815-16A>T MANE Plus Clinical | ENSP00000496776.1:n.1815-16A>T | |
| ENST00000646730.1:c.*271-16A>T | ENSP00000494784.1:n.*271-16A>T | |
| ENST00000646891.1:c.1695-16A>T | ENSP00000493543.1:n.1695-16A>T | |
| ENST00000647434.1:c.738-4831A>T | ENSP00000495132.1:n.738-4831A>T | |
| ENST00000288602.10:c.1695-16A>T | ENSP00000288602.6:n.1695-16A>T | |
| ENST00000496384.6:c.518-16A>T | ||
| ENST00000497784.1:c.1730-16A>T | ENSP00000420119.1:n.1730-16A>T | |
| NM_004333.4:c.1695-16A>T , LRG_299t1:c.1695-16A>T | NP_004324.2:n.1695-16A>T | |
| XM_005250045.1:c.1695-16A>T | XP_005250102.1:n.1695-16A>T | |
| XM_005250046.1:c.1695-16A>T | XP_005250103.1:n.1695-16A>T | |
| XM_011516529.1:c.1695-16A>T | XP_011514831.1:n.1695-16A>T | |
| XM_011516530.1:c.1695-4831A>T | XP_011514832.1:n.1695-4831A>T | |
| XR_242190.1:n.1703-16A>T | ||
| XR_927520.1:n.1703-16A>T | ||
| XR_927521.1:n.1703-16A>T | ||
| XR_927522.1:n.1703-4831A>T | ||
| XR_927523.1:n.1703-4831A>T | ||
| NM_001354609.1:c.1695-16A>T | NP_001341538.1:n.1695-16A>T | |
| NM_004333.5:c.1695-16A>T | NP_004324.2:n.1695-16A>T | |
| NR_148928.1:n.2000-16A>T | ||
| XM_017012558.1:c.1815-16A>T | XP_016868047.1:n.1815-16A>T | |
| XM_017012559.1:c.1815-16A>T | XP_016868048.1:n.1815-16A>T | |
| XR_001744857.1:n.1823-16A>T | ||
| XR_001744858.1:n.1823-4831A>T | ||
| NM_001354609.2:c.1695-16A>T | NP_001341538.1:n.1695-16A>T | |
| NM_001374244.1:c.1815-16A>T | NP_001361173.1:n.1815-16A>T | |
| NM_001374258.1:c.1815-16A>T MANE Plus Clinical | NP_001361187.1:n.1815-16A>T | |
| NM_004333.6:c.1695-16A>T MANE Select | NP_004324.2:n.1695-16A>T | |
| NM_001378467.1:c.1704-16A>T | NP_001365396.1:n.1704-16A>T | |
| NM_001378468.1:c.1695-16A>T | NP_001365397.1:n.1695-16A>T | |
| NM_001378469.1:c.1629-16A>T | NP_001365398.1:n.1629-16A>T | |
| NM_001378470.1:c.1593-16A>T | NP_001365399.1:n.1593-16A>T | |
| NM_001378471.1:c.1584-16A>T | NP_001365400.1:n.1584-16A>T | |
| NM_001378472.1:c.1539-16A>T | NP_001365401.1:n.1539-16A>T | |
| NM_001378473.1:c.1539-16A>T | NP_001365402.1:n.1539-16A>T | |
| NM_001378474.1:c.1695-16A>T | NP_001365403.1:n.1695-16A>T | |
| NM_001378475.1:c.1431-16A>T | NP_001365404.1:n.1431-16A>T |