Linked Data
ClinVar Variation Id:
155733
dbSNP Id:
rs148355156
ExAC:
16:70295047 G / A
gnomAD v2:
16-70295047-G-A
gnomAD v3:
16-70261144-G-A
gnomAD v4:
16-70261144-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70261144G>A , CM000678.2:g.70261144G>A | GRCh38 |
| NC_000016.9:g.70295047G>A , CM000678.1:g.70295047G>A | GRCh37 |
| NC_000016.8:g.68852548G>A | NCBI36 |
| NG_023191.1:g.33366C>T , LRG_359:g.33366C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261772.13:c.1685C>T MANE Select | ENSP00000261772.8:p.Thr562Ile | |
| ENST00000564359.6:n.1843C>T | ||
| ENST00000565361.3:c.1685C>T | ENSP00000455360.3:p.Thr562Ile | |
| ENST00000674512.1:c.1664C>T | ENSP00000501613.1:p.Thr555Ile | |
| ENST00000674652.1:c.*712C>T | ENSP00000502620.1:n.*712C>T | |
| ENST00000674691.1:c.1685C>T | ENSP00000502247.1:p.Thr562Ile | |
| ENST00000674768.1:c.1506C>T | ENSP00000501679.1:p.Tyr502= | |
| ENST00000674811.1:c.963-1958C>T | ENSP00000502055.1:n.963-1958C>T | |
| ENST00000674848.1:n.1734C>T | ||
| ENST00000674962.1:n.1843C>T | ||
| ENST00000674963.1:c.1685C>T | ENSP00000501924.1:p.Thr562Ile | |
| ENST00000675035.1:c.1685C>T | ENSP00000502712.1:p.Thr562Ile | |
| ENST00000675045.1:c.1685C>T | ENSP00000502014.1:p.Thr562Ile | |
| ENST00000675120.1:c.1678C>T | ENSP00000502823.1:p.Gln560Ter | |
| ENST00000675133.1:c.1658C>T | ENSP00000502230.1:p.Thr553Ile | |
| ENST00000675270.1:n.1820C>T | ||
| ENST00000675297.1:c.*37C>T | ENSP00000502753.1:n.*37C>T | |
| ENST00000675371.1:c.1685C>T | ENSP00000502645.1:p.Thr562Ile | |
| ENST00000675403.1:n.1843C>T | ||
| ENST00000675569.1:c.*919C>T | ENSP00000502534.1:n.*919C>T | |
| ENST00000675643.1:c.1685C>T | ENSP00000502797.1:p.Thr562Ile | |
| ENST00000675691.1:c.1556C>T | ENSP00000502196.1:p.Thr519Ile | |
| ENST00000675751.1:c.*712C>T | ENSP00000502277.1:n.*712C>T | |
| ENST00000675853.1:c.1685C>T | ENSP00000502367.1:p.Thr562Ile | |
| ENST00000675917.1:n.1982C>T | ||
| ENST00000675953.1:c.1601C>T | ENSP00000502321.1:p.Thr534Ile | |
| ENST00000675986.1:n.1843C>T | ||
| ENST00000676004.1:c.*1684C>T | ENSP00000502765.1:n.*1684C>T | |
| ENST00000676040.1:c.*919C>T | ENSP00000502108.1:n.*919C>T | |
| ENST00000676168.1:c.1685C>T | ENSP00000502479.1:p.Thr562Ile | |
| ENST00000676209.1:c.*37C>T | ENSP00000502052.1:n.*37C>T | |
| ENST00000676211.1:c.*712C>T | ENSP00000502726.1:n.*712C>T | |
| ENST00000676212.1:c.1685C>T | ENSP00000501853.1:p.Thr562Ile | |
| ENST00000676247.1:c.*37C>T | ENSP00000502699.1:n.*37C>T | |
| ENST00000261772.12:c.1685C>T | ENSP00000261772.7:p.Thr562Ile | |
| ENST00000564359.5:n.181C>T | ||
| ENST00000565361.2:c.30C>T | ||
| ENST00000567490.1:n.270C>T | ||
| ENST00000569790.2:n.277C>T | ||
| NM_001605.2:c.1685C>T , LRG_359t1:c.1685C>T | NP_001596.2:p.Thr562Ile | |
| XR_933220.1:n.1836C>T | ||
| XR_933220.3:n.1795C>T | ||
| NM_001605.3:c.1685C>T MANE Select | NP_001596.2:p.Thr562Ile |