Linked Data
ClinVar Variation Id:
246158
dbSNP Id:
rs771059047
ExAC:
16:70298872 C / A
gnomAD v2:
16-70298872-C-A
gnomAD v3:
16-70264969-C-A
gnomAD v4:
16-70264969-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70264969C>A , CM000678.2:g.70264969C>A | GRCh38 |
| NC_000016.9:g.70298872C>A , CM000678.1:g.70298872C>A | GRCh37 |
| NC_000016.8:g.68856373C>A | NCBI36 |
| NG_023191.1:g.29541G>T , LRG_359:g.29541G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261772.13:c.1481G>T MANE Select | ENSP00000261772.8:p.Ser494Ile | |
| ENST00000564359.6:n.1639G>T | ||
| ENST00000565361.3:c.1481G>T | ENSP00000455360.3:p.Ser494Ile | |
| ENST00000674512.1:c.1481G>T | ENSP00000501613.1:p.Ser494Ile | |
| ENST00000674652.1:c.*508G>T | ENSP00000502620.1:n.*508G>T | |
| ENST00000674691.1:c.1481G>T | ENSP00000502247.1:p.Ser494Ile | |
| ENST00000674768.1:c.1481G>T | ENSP00000501679.1:p.Ser494Ile | |
| ENST00000674811.1:c.962+4649G>T | ENSP00000502055.1:n.962+4649G>T | |
| ENST00000674848.1:n.1530G>T | ||
| ENST00000674962.1:n.1639G>T | ||
| ENST00000674963.1:c.1481G>T | ENSP00000501924.1:p.Ser494Ile | |
| ENST00000675035.1:c.1481G>T | ENSP00000502712.1:p.Ser494Ile | |
| ENST00000675045.1:c.1481G>T | ENSP00000502014.1:p.Ser494Ile | |
| ENST00000675120.1:c.1481G>T | ENSP00000502823.1:p.Ser494Ile | |
| ENST00000675133.1:c.1481G>T | ENSP00000502230.1:p.Ser494Ile | |
| ENST00000675270.1:n.1616G>T | ||
| ENST00000675297.1:c.1481G>T | ENSP00000502753.1:p.Ser494Ile | |
| ENST00000675338.1:n.1637G>T | ||
| ENST00000675371.1:c.1481G>T | ENSP00000502645.1:p.Ser494Ile | |
| ENST00000675403.1:n.1639G>T | ||
| ENST00000675569.1:c.*715G>T | ENSP00000502534.1:n.*715G>T | |
| ENST00000675643.1:c.1481G>T | ENSP00000502797.1:p.Ser494Ile | |
| ENST00000675691.1:c.1352G>T | ENSP00000502196.1:p.Ser451Ile | |
| ENST00000675751.1:c.*508G>T | ENSP00000502277.1:n.*508G>T | |
| ENST00000675853.1:c.1481G>T | ENSP00000502367.1:p.Ser494Ile | |
| ENST00000675917.1:n.1778G>T | ||
| ENST00000675953.1:c.1397G>T | ENSP00000502321.1:p.Ser466Ile | |
| ENST00000675986.1:n.1639G>T | ||
| ENST00000676004.1:c.*1480G>T | ENSP00000502765.1:n.*1480G>T | |
| ENST00000676040.1:c.*715G>T | ENSP00000502108.1:n.*715G>T | |
| ENST00000676168.1:c.1481G>T | ENSP00000502479.1:p.Ser494Ile | |
| ENST00000676209.1:c.1481G>T | ENSP00000502052.1:p.Ser494Ile | |
| ENST00000676211.1:c.*508G>T | ENSP00000502726.1:n.*508G>T | |
| ENST00000676212.1:c.1481G>T | ENSP00000501853.1:p.Ser494Ile | |
| ENST00000676247.1:c.1481G>T | ENSP00000502699.1:p.Ser494Ile | |
| ENST00000261772.12:c.1481G>T | ENSP00000261772.7:p.Ser494Ile | |
| ENST00000564359.5:n.17G>T | ||
| ENST00000566969.1:n.547G>T | ||
| ENST00000569790.2:n.263+569G>T | ||
| NM_001605.2:c.1481G>T , LRG_359t1:c.1481G>T | NP_001596.2:p.Ser494Ile | |
| XR_933220.1:n.1632G>T | ||
| XR_933220.3:n.1591G>T | ||
| NM_001605.3:c.1481G>T MANE Select | NP_001596.2:p.Ser494Ile |