Linked Data
ClinVar Variation Id:
232546
dbSNP Id:
rs754648125
ExAC:
5:112176815 T / A
gnomAD v2:
5-112176815-T-A
gnomAD v4:
5-112841118-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112841118T>A , CM000667.2:g.112841118T>A | GRCh38 |
| NC_000005.9:g.112176815T>A , CM000667.1:g.112176815T>A | GRCh37 |
| NC_000005.8:g.112204714T>A | NCBI36 |
| NG_008481.4:g.153598T>A , LRG_130:g.153598T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.5578T>A | ENSP00000473355.2:p.Ser1860Thr | |
| ENST00000505350.2:c.*5530T>A | ENSP00000481752.1:n.*5530T>A | |
| ENST00000507379.6:c.5470T>A | ENSP00000423224.2:p.Ser1824Thr | |
| ENST00000509732.6:c.5524T>A | ENSP00000426541.2:p.Ser1842Thr | |
| ENST00000512211.7:c.5524T>A | ENSP00000423828.3:p.Ser1842Thr | |
| ENST00000257430.9:c.5524T>A MANE Select | ENSP00000257430.4:p.Ser1842Thr | |
| ENST00000257430.8:c.5524T>A | ENSP00000257430.4:p.Ser1842Thr | |
| ENST00000508376.6:c.5524T>A | ENSP00000427089.2:p.Ser1842Thr | |
| ENST00000508624.5:c.*4846T>A | ENSP00000424265.1:n.*4846T>A | |
| ENST00000520401.1:c.230+12146T>A | ||
| NM_000038.5:c.5524T>A | NP_000029.2:p.Ser1842Thr | |
| NM_001127510.2:c.5524T>A | NP_001120982.1:p.Ser1842Thr | |
| NM_001127511.2:c.5470T>A | NP_001120983.2:p.Ser1824Thr | |
| NM_001354895.1:c.5524T>A | NP_001341824.1:p.Ser1842Thr | |
| NM_001354896.1:c.5578T>A | NP_001341825.1:p.Ser1860Thr | |
| NM_001354897.1:c.5554T>A | NP_001341826.1:p.Ser1852Thr | |
| NM_001354898.1:c.5449T>A | NP_001341827.1:p.Ser1817Thr | |
| NM_001354899.1:c.5440T>A | NP_001341828.1:p.Ser1814Thr | |
| NM_001354900.1:c.5401T>A | NP_001341829.1:p.Ser1801Thr | |
| NM_001354901.1:c.5347T>A | NP_001341830.1:p.Ser1783Thr | |
| NM_001354902.1:c.5251T>A | NP_001341831.1:p.Ser1751Thr | |
| NM_001354903.1:c.5221T>A | NP_001341832.1:p.Ser1741Thr | |
| NM_001354904.1:c.5146T>A | NP_001341833.1:p.Ser1716Thr | |
| NM_001354905.1:c.5044T>A | NP_001341834.1:p.Ser1682Thr | |
| NM_001354906.1:c.4675T>A | NP_001341835.1:p.Ser1559Thr | |
| NM_000038.6:c.5524T>A MANE Select | NP_000029.2:p.Ser1842Thr | |
| NM_001127510.3:c.5524T>A | NP_001120982.1:p.Ser1842Thr | |
| NM_001127511.3:c.5470T>A | NP_001120983.2:p.Ser1824Thr | |
| NM_001354895.2:c.5524T>A | NP_001341824.1:p.Ser1842Thr | |
| NM_001354896.2:c.5578T>A | NP_001341825.1:p.Ser1860Thr | |
| NM_001354897.2:c.5554T>A | NP_001341826.1:p.Ser1852Thr | |
| NM_001354898.2:c.5449T>A | NP_001341827.1:p.Ser1817Thr | |
| NM_001354899.2:c.5440T>A | NP_001341828.1:p.Ser1814Thr | |
| NM_001354900.2:c.5401T>A | NP_001341829.1:p.Ser1801Thr | |
| NM_001354901.2:c.5347T>A | NP_001341830.1:p.Ser1783Thr | |
| NM_001354902.2:c.5251T>A | NP_001341831.1:p.Ser1751Thr | |
| NM_001354903.2:c.5221T>A | NP_001341832.1:p.Ser1741Thr | |
| NM_001354904.2:c.5146T>A | NP_001341833.1:p.Ser1716Thr | |
| NM_001354905.2:c.5044T>A | NP_001341834.1:p.Ser1682Thr | |
| NM_001354906.2:c.4675T>A | NP_001341835.1:p.Ser1559Thr |