Linked Data
ClinVar Variation Id:
372287
dbSNP Id:
rs369797061
ExAC:
16:70296392 G / A
gnomAD v2:
16-70296392-G-A
gnomAD v3:
16-70262489-G-A
gnomAD v4:
16-70262489-G-A
COSMIC:
COSM972988
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70262489G>A , CM000678.2:g.70262489G>A | GRCh38 |
| NC_000016.9:g.70296392G>A , CM000678.1:g.70296392G>A | GRCh37 |
| NC_000016.8:g.68853893G>A | NCBI36 |
| NG_023191.1:g.32021C>T , LRG_359:g.32021C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261772.13:c.1528C>T MANE Select | ENSP00000261772.8:p.Arg510Cys | |
| ENST00000564359.6:n.1686C>T | ||
| ENST00000565361.3:c.1528C>T | ENSP00000455360.3:p.Arg510Cys | |
| ENST00000674512.1:c.1528C>T | ENSP00000501613.1:p.Arg510Cys | |
| ENST00000674652.1:c.*555C>T | ENSP00000502620.1:n.*555C>T | |
| ENST00000674691.1:c.1528C>T | ENSP00000502247.1:p.Arg510Cys | |
| ENST00000674768.1:c.1493-1332C>T | ENSP00000501679.1:n.1493-1332C>T | |
| ENST00000674811.1:c.963-3303C>T | ENSP00000502055.1:n.963-3303C>T | |
| ENST00000674848.1:n.1577C>T | ||
| ENST00000674962.1:n.1686C>T | ||
| ENST00000674963.1:c.1528C>T | ENSP00000501924.1:p.Arg510Cys | |
| ENST00000675035.1:c.1528C>T | ENSP00000502712.1:p.Arg510Cys | |
| ENST00000675045.1:c.1528C>T | ENSP00000502014.1:p.Arg510Cys | |
| ENST00000675120.1:c.1528C>T | ENSP00000502823.1:p.Arg510Cys | |
| ENST00000675133.1:c.1528C>T | ENSP00000502230.1:p.Arg510Cys | |
| ENST00000675270.1:n.1663C>T | ||
| ENST00000675297.1:c.1493-5C>T | ENSP00000502753.1:n.1493-5C>T | |
| ENST00000675371.1:c.1528C>T | ENSP00000502645.1:p.Arg510Cys | |
| ENST00000675403.1:n.1686C>T | ||
| ENST00000675569.1:c.*762C>T | ENSP00000502534.1:n.*762C>T | |
| ENST00000675643.1:c.1528C>T | ENSP00000502797.1:p.Arg510Cys | |
| ENST00000675691.1:c.1399C>T | ENSP00000502196.1:p.Arg467Cys | |
| ENST00000675751.1:c.*555C>T | ENSP00000502277.1:n.*555C>T | |
| ENST00000675853.1:c.1528C>T | ENSP00000502367.1:p.Arg510Cys | |
| ENST00000675917.1:n.1825C>T | ||
| ENST00000675953.1:c.1444C>T | ENSP00000502321.1:p.Arg482Cys | |
| ENST00000675986.1:n.1686C>T | ||
| ENST00000676004.1:c.*1527C>T | ENSP00000502765.1:n.*1527C>T | |
| ENST00000676040.1:c.*762C>T | ENSP00000502108.1:n.*762C>T | |
| ENST00000676168.1:c.1528C>T | ENSP00000502479.1:p.Arg510Cys | |
| ENST00000676209.1:c.1493-5C>T | ENSP00000502052.1:n.1493-5C>T | |
| ENST00000676211.1:c.*555C>T | ENSP00000502726.1:n.*555C>T | |
| ENST00000676212.1:c.1528C>T | ENSP00000501853.1:p.Arg510Cys | |
| ENST00000676247.1:c.1493-5C>T | ENSP00000502699.1:n.1493-5C>T | |
| ENST00000261772.12:c.1528C>T | ENSP00000261772.7:p.Arg510Cys | |
| ENST00000564359.5:n.29-5C>T | ||
| ENST00000566969.1:n.594C>T | ||
| ENST00000569790.2:n.264-1332C>T | ||
| NM_001605.2:c.1528C>T , LRG_359t1:c.1528C>T | NP_001596.2:p.Arg510Cys | |
| XR_933220.1:n.1679C>T | ||
| XR_933220.3:n.1638C>T | ||
| NM_001605.3:c.1528C>T MANE Select | NP_001596.2:p.Arg510Cys |