Linked Data
ClinVar Variation Id:
231917
dbSNP Id:
rs371453363
ExAC:
5:112163630 C / T
gnomAD v2:
5-112163630-C-T
gnomAD v3:
5-112827933-C-T
gnomAD v4:
5-112827933-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112827933C>T , CM000667.2:g.112827933C>T | GRCh38 |
| NC_000005.9:g.112163630C>T , CM000667.1:g.112163630C>T | GRCh37 |
| NC_000005.8:g.112191529C>T | NCBI36 |
| NG_008481.4:g.140413C>T , LRG_130:g.140413C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.1408+5942C>T | ENSP00000484935.2:n.1408+5942C>T | |
| ENST00000504915.3:c.1607C>T | ENSP00000473355.2:p.Thr536Met | |
| ENST00000505084.2:n.1609C>T | ||
| ENST00000505350.2:c.*1559C>T | ENSP00000481752.1:n.*1559C>T | |
| ENST00000507379.6:c.1499C>T | ENSP00000423224.2:p.Thr500Met | |
| ENST00000509732.6:c.1553C>T | ENSP00000426541.2:p.Thr518Met | |
| ENST00000512211.7:c.1553C>T | ENSP00000423828.3:p.Thr518Met | |
| ENST00000257430.9:c.1553C>T MANE Select | ENSP00000257430.4:p.Thr518Met | |
| ENST00000257430.8:c.1553C>T | ENSP00000257430.4:p.Thr518Met | |
| ENST00000502371.2:c.96+5942C>T | ||
| ENST00000504915.2:c.242C>T | ENSP00000473355.1:p.Thr81Met | |
| ENST00000505084.1:n.40C>T | ||
| ENST00000507379.5:c.1499C>T | ENSP00000423224.1:p.Thr500Met | |
| ENST00000508376.6:c.1553C>T | ENSP00000427089.2:p.Thr518Met | |
| ENST00000508624.5:c.*875C>T | ENSP00000424265.1:n.*875C>T | |
| ENST00000512211.6:c.1553C>T | ENSP00000423828.2:p.Thr518Met | |
| ENST00000520401.1:c.40C>T | ||
| NM_000038.5:c.1553C>T | NP_000029.2:p.Thr518Met | |
| NM_001127510.2:c.1553C>T | NP_001120982.1:p.Thr518Met | |
| NM_001127511.2:c.1499C>T | NP_001120983.2:p.Thr500Met | |
| NM_001354895.1:c.1553C>T | NP_001341824.1:p.Thr518Met | |
| NM_001354896.1:c.1607C>T | NP_001341825.1:p.Thr536Met | |
| NM_001354897.1:c.1583C>T | NP_001341826.1:p.Thr528Met | |
| NM_001354898.1:c.1478C>T | NP_001341827.1:p.Thr493Met | |
| NM_001354899.1:c.1469C>T | NP_001341828.1:p.Thr490Met | |
| NM_001354900.1:c.1430C>T | NP_001341829.1:p.Thr477Met | |
| NM_001354901.1:c.1376C>T | NP_001341830.1:p.Thr459Met | |
| NM_001354902.1:c.1280C>T | NP_001341831.1:p.Thr427Met | |
| NM_001354903.1:c.1250C>T | NP_001341832.1:p.Thr417Met | |
| NM_001354904.1:c.1175C>T | NP_001341833.1:p.Thr392Met | |
| NM_001354905.1:c.1073C>T | NP_001341834.1:p.Thr358Met | |
| NM_001354906.1:c.704C>T | NP_001341835.1:p.Thr235Met | |
| NM_000038.6:c.1553C>T MANE Select | NP_000029.2:p.Thr518Met | |
| NM_001127510.3:c.1553C>T | NP_001120982.1:p.Thr518Met | |
| NM_001127511.3:c.1499C>T | NP_001120983.2:p.Thr500Met | |
| NM_001354895.2:c.1553C>T | NP_001341824.1:p.Thr518Met | |
| NM_001354896.2:c.1607C>T | NP_001341825.1:p.Thr536Met | |
| NM_001354897.2:c.1583C>T | NP_001341826.1:p.Thr528Met | |
| NM_001354898.2:c.1478C>T | NP_001341827.1:p.Thr493Met | |
| NM_001354899.2:c.1469C>T | NP_001341828.1:p.Thr490Met | |
| NM_001354900.2:c.1430C>T | NP_001341829.1:p.Thr477Met | |
| NM_001354901.2:c.1376C>T | NP_001341830.1:p.Thr459Met | |
| NM_001354902.2:c.1280C>T | NP_001341831.1:p.Thr427Met | |
| NM_001354903.2:c.1250C>T | NP_001341832.1:p.Thr417Met | |
| NM_001354904.2:c.1175C>T | NP_001341833.1:p.Thr392Met | |
| NM_001354905.2:c.1073C>T | NP_001341834.1:p.Thr358Met | |
| NM_001354906.2:c.704C>T | NP_001341835.1:p.Thr235Met |