Linked Data
ClinVar Variation Id:
302747
dbSNP Id:
rs201656540
ExAC:
11:118968265 C / T
gnomAD v2:
11-118968265-C-T
gnomAD v3:
11-119097555-C-T
gnomAD v4:
11-119097555-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119097555C>T , CM000673.2:g.119097555C>T | GRCh38 |
| NC_000011.9:g.118968265C>T , CM000673.1:g.118968265C>T | GRCh37 |
| NC_000011.8:g.118473475C>T | NCBI36 |
| NG_008918.1:g.9521G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445653.6:n.976-4G>A | ||
| ENST00000524658.2:n.957-4G>A | ||
| ENST00000530052.2:n.1959G>A | ||
| ENST00000682191.1:n.1419G>A | ||
| ENST00000682192.1:n.1120-4G>A | ||
| ENST00000682232.1:c.*623-258G>A | ENSP00000507302.1:n.*623-258G>A | |
| ENST00000682326.1:c.918-258G>A | ENSP00000508129.1:n.918-258G>A | |
| ENST00000682404.1:n.2019-4G>A | ||
| ENST00000682517.1:n.2318G>A | ||
| ENST00000682652.1:n.2188G>A | ||
| ENST00000682665.1:n.1614G>A | ||
| ENST00000682691.1:n.1614G>A | ||
| ENST00000682791.1:c.831-4G>A | ENSP00000507312.1:n.831-4G>A | |
| ENST00000682811.1:c.800-4G>A | ENSP00000508196.1:n.800-4G>A | |
| ENST00000682883.1:n.1032-258G>A | ||
| ENST00000682946.1:c.729-4G>A | ENSP00000506856.1:n.729-4G>A | |
| ENST00000683143.1:c.*623-4G>A | ENSP00000507168.1:n.*623-4G>A | |
| ENST00000683373.1:n.1419G>A | ||
| ENST00000683558.1:n.1419G>A | ||
| ENST00000683567.1:n.1027-4G>A | ||
| ENST00000683955.1:n.1674-4G>A | ||
| ENST00000684142.1:c.*593-4G>A | ENSP00000508008.1:n.*593-4G>A | |
| ENST00000684252.1:n.1315-4G>A | ||
| ENST00000684255.1:c.*623-4G>A | ENSP00000507398.1:n.*623-4G>A | |
| ENST00000684315.1:n.1651-4G>A | ||
| ENST00000684345.1:c.*892G>A | ENSP00000507163.1:n.*892G>A | |
| ENST00000684499.1:c.*1023-4G>A | ENSP00000506800.1:n.*1023-4G>A | |
| ENST00000684682.1:c.*645G>A | ENSP00000507326.1:n.*645G>A | |
| ENST00000354202.9:c.918-4G>A MANE Select | ENSP00000346142.4:n.918-4G>A | |
| ENST00000636404.1:c.233-492G>A | ||
| ENST00000638850.1:c.422-4G>A | ||
| ENST00000639704.1:c.825-4G>A | ENSP00000491336.1:n.825-4G>A | |
| ENST00000640102.1:c.*571-4G>A | ENSP00000492027.1:n.*571-4G>A | |
| ENST00000640747.1:c.*593-4G>A | ENSP00000492730.1:n.*593-4G>A | |
| ENST00000354202.8:c.918-4G>A | ENSP00000346142.4:n.918-4G>A | |
| ENST00000392834.7:c.*623-4G>A | ENSP00000376579.3:n.*623-4G>A | |
| ENST00000409993.6:c.918-4G>A | ENSP00000386597.2:n.918-4G>A | |
| ENST00000414373.5:c.*475-258G>A | ENSP00000402019.1:n.*475-258G>A | |
| ENST00000442480.1:c.650-4G>A | ENSP00000406591.1:n.650-4G>A | |
| ENST00000461999.1:n.1081G>A | ||
| ENST00000481084.5:n.1547-4G>A | ||
| ENST00000524658.1:n.223-4G>A | ||
| ENST00000525456.5:n.732-4G>A | ||
| NM_001382.3:c.918-4G>A | NP_001373.2:n.918-4G>A | |
| XM_005271422.2:c.918-4G>A | XP_005271479.1:n.918-4G>A | |
| XM_011542648.1:c.597-4G>A | XP_011540950.1:n.597-4G>A | |
| XR_947801.1:n.1165-258G>A | ||
| XM_005271422.3:c.918-4G>A | XP_005271479.1:n.918-4G>A | |
| XM_011542648.2:c.597-4G>A | XP_011540950.1:n.597-4G>A | |
| XM_017017293.2:c.597-4G>A | XP_016872782.1:n.597-4G>A | |
| XM_017017294.2:c.729-4G>A | XP_016872783.1:n.729-4G>A | |
| XM_017017295.1:c.402-4G>A | XP_016872784.1:n.402-4G>A | |
| XR_001747785.2:n.952-4G>A | ||
| XR_947801.2:n.952-258G>A | ||
| NM_001382.4:c.918-4G>A MANE Select | NP_001373.2:n.918-4G>A |