Linked Data
ClinVar Variation Id:
320339
dbSNP Id:
rs142181559
ExAC:
16:70296324 G / T
gnomAD v3:
16-70262421-G-T
gnomAD v4:
16-70262421-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70262421G>T , CM000678.2:g.70262421G>T | GRCh38 |
| NC_000016.9:g.70296324G>T , CM000678.1:g.70296324G>T | GRCh37 |
| NC_000016.8:g.68853825G>T | NCBI36 |
| NG_023191.1:g.32089C>A , LRG_359:g.32089C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261772.13:c.1596C>A MANE Select | ENSP00000261772.8:p.Thr532= | |
| ENST00000564359.6:n.1754C>A | ||
| ENST00000565361.3:c.1596C>A | ENSP00000455360.3:p.Thr532= | |
| ENST00000674512.1:c.1596C>A | ENSP00000501613.1:p.Thr532= | |
| ENST00000674652.1:c.*623C>A | ENSP00000502620.1:n.*623C>A | |
| ENST00000674691.1:c.1596C>A | ENSP00000502247.1:p.Thr532= | |
| ENST00000674768.1:c.1493-1264C>A | ENSP00000501679.1:n.1493-1264C>A | |
| ENST00000674811.1:c.963-3235C>A | ENSP00000502055.1:n.963-3235C>A | |
| ENST00000674848.1:n.1645C>A | ||
| ENST00000674962.1:n.1754C>A | ||
| ENST00000674963.1:c.1596C>A | ENSP00000501924.1:p.Thr532= | |
| ENST00000675035.1:c.1596C>A | ENSP00000502712.1:p.Thr532= | |
| ENST00000675045.1:c.1596C>A | ENSP00000502014.1:p.Thr532= | |
| ENST00000675120.1:c.1596C>A | ENSP00000502823.1:p.Thr532= | |
| ENST00000675133.1:c.1596C>A | ENSP00000502230.1:p.Thr532= | |
| ENST00000675270.1:n.1731C>A | ||
| ENST00000675297.1:c.1556C>A | ENSP00000502753.1:p.Pro519His | |
| ENST00000675371.1:c.1596C>A | ENSP00000502645.1:p.Thr532= | |
| ENST00000675403.1:n.1754C>A | ||
| ENST00000675569.1:c.*830C>A | ENSP00000502534.1:n.*830C>A | |
| ENST00000675643.1:c.1596C>A | ENSP00000502797.1:p.Thr532= | |
| ENST00000675691.1:c.1467C>A | ENSP00000502196.1:p.Thr489= | |
| ENST00000675751.1:c.*623C>A | ENSP00000502277.1:n.*623C>A | |
| ENST00000675853.1:c.1596C>A | ENSP00000502367.1:p.Thr532= | |
| ENST00000675917.1:n.1893C>A | ||
| ENST00000675953.1:c.1512C>A | ENSP00000502321.1:p.Thr504= | |
| ENST00000675986.1:n.1754C>A | ||
| ENST00000676004.1:c.*1595C>A | ENSP00000502765.1:n.*1595C>A | |
| ENST00000676040.1:c.*830C>A | ENSP00000502108.1:n.*830C>A | |
| ENST00000676168.1:c.1596C>A | ENSP00000502479.1:p.Thr532= | |
| ENST00000676209.1:c.1556C>A | ENSP00000502052.1:p.Pro519His | |
| ENST00000676211.1:c.*623C>A | ENSP00000502726.1:n.*623C>A | |
| ENST00000676212.1:c.1596C>A | ENSP00000501853.1:p.Thr532= | |
| ENST00000676247.1:c.1556C>A | ENSP00000502699.1:p.Pro519His | |
| ENST00000261772.12:c.1596C>A | ENSP00000261772.7:p.Thr532= | |
| ENST00000564359.5:n.92C>A | ||
| ENST00000569790.2:n.264-1264C>A | ||
| NM_001605.2:c.1596C>A , LRG_359t1:c.1596C>A | NP_001596.2:p.Thr532= | |
| XR_933220.1:n.1747C>A | ||
| XR_933220.3:n.1706C>A | ||
| NM_001605.3:c.1596C>A MANE Select | NP_001596.2:p.Thr532= |