Linked Data
ClinVar Variation Id:
258077
dbSNP Id:
rs145206990
ExAC:
11:118968279 C / T
gnomAD v2:
11-118968279-C-T
gnomAD v3:
11-119097569-C-T
gnomAD v4:
11-119097569-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119097569C>T , CM000673.2:g.119097569C>T | GRCh38 |
| NC_000011.9:g.118968279C>T , CM000673.1:g.118968279C>T | GRCh37 |
| NC_000011.8:g.118473489C>T | NCBI36 |
| NG_008918.1:g.9507G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445653.6:n.976-18G>A | ||
| ENST00000524658.2:n.957-18G>A | ||
| ENST00000530052.2:n.1945G>A | ||
| ENST00000682191.1:n.1405G>A | ||
| ENST00000682192.1:n.1120-18G>A | ||
| ENST00000682232.1:c.*623-272G>A | ENSP00000507302.1:n.*623-272G>A | |
| ENST00000682326.1:c.918-272G>A | ENSP00000508129.1:n.918-272G>A | |
| ENST00000682404.1:n.2019-18G>A | ||
| ENST00000682517.1:n.2304G>A | ||
| ENST00000682652.1:n.2174G>A | ||
| ENST00000682665.1:n.1600G>A | ||
| ENST00000682691.1:n.1600G>A | ||
| ENST00000682791.1:c.831-18G>A | ENSP00000507312.1:n.831-18G>A | |
| ENST00000682811.1:c.800-18G>A | ENSP00000508196.1:n.800-18G>A | |
| ENST00000682883.1:n.1032-272G>A | ||
| ENST00000682946.1:c.729-18G>A | ENSP00000506856.1:n.729-18G>A | |
| ENST00000683143.1:c.*623-18G>A | ENSP00000507168.1:n.*623-18G>A | |
| ENST00000683373.1:n.1405G>A | ||
| ENST00000683558.1:n.1405G>A | ||
| ENST00000683567.1:n.1027-18G>A | ||
| ENST00000683955.1:n.1674-18G>A | ||
| ENST00000684142.1:c.*593-18G>A | ENSP00000508008.1:n.*593-18G>A | |
| ENST00000684252.1:n.1315-18G>A | ||
| ENST00000684255.1:c.*623-18G>A | ENSP00000507398.1:n.*623-18G>A | |
| ENST00000684315.1:n.1651-18G>A | ||
| ENST00000684345.1:c.*878G>A | ENSP00000507163.1:n.*878G>A | |
| ENST00000684499.1:c.*1023-18G>A | ENSP00000506800.1:n.*1023-18G>A | |
| ENST00000684682.1:c.*631G>A | ENSP00000507326.1:n.*631G>A | |
| ENST00000354202.9:c.918-18G>A MANE Select | ENSP00000346142.4:n.918-18G>A | |
| ENST00000636404.1:c.233-506G>A | ||
| ENST00000638850.1:c.422-18G>A | ||
| ENST00000639704.1:c.825-18G>A | ENSP00000491336.1:n.825-18G>A | |
| ENST00000640102.1:c.*571-18G>A | ENSP00000492027.1:n.*571-18G>A | |
| ENST00000640747.1:c.*593-18G>A | ENSP00000492730.1:n.*593-18G>A | |
| ENST00000354202.8:c.918-18G>A | ENSP00000346142.4:n.918-18G>A | |
| ENST00000392834.7:c.*623-18G>A | ENSP00000376579.3:n.*623-18G>A | |
| ENST00000409993.6:c.918-18G>A | ENSP00000386597.2:n.918-18G>A | |
| ENST00000414373.5:c.*475-272G>A | ENSP00000402019.1:n.*475-272G>A | |
| ENST00000442480.1:c.650-18G>A | ENSP00000406591.1:n.650-18G>A | |
| ENST00000461999.1:n.1067G>A | ||
| ENST00000481084.5:n.1547-18G>A | ||
| ENST00000524658.1:n.223-18G>A | ||
| ENST00000525456.5:n.732-18G>A | ||
| NM_001382.3:c.918-18G>A | NP_001373.2:n.918-18G>A | |
| XM_005271422.2:c.918-18G>A | XP_005271479.1:n.918-18G>A | |
| XM_011542648.1:c.597-18G>A | XP_011540950.1:n.597-18G>A | |
| XR_947801.1:n.1165-272G>A | ||
| XM_005271422.3:c.918-18G>A | XP_005271479.1:n.918-18G>A | |
| XM_011542648.2:c.597-18G>A | XP_011540950.1:n.597-18G>A | |
| XM_017017293.2:c.597-18G>A | XP_016872782.1:n.597-18G>A | |
| XM_017017294.2:c.729-18G>A | XP_016872783.1:n.729-18G>A | |
| XM_017017295.1:c.402-18G>A | XP_016872784.1:n.402-18G>A | |
| XR_001747785.2:n.952-18G>A | ||
| XR_947801.2:n.952-272G>A | ||
| NM_001382.4:c.918-18G>A MANE Select | NP_001373.2:n.918-18G>A |