Linked Data
ClinVar Variation Id:
320329
dbSNP Id:
rs768412428
ExAC:
16:70287921 G / T
gnomAD v2:
16-70287921-G-T
gnomAD v4:
16-70254018-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70254018G>T , CM000678.2:g.70254018G>T | GRCh38 |
| NC_000016.9:g.70287921G>T , CM000678.1:g.70287921G>T | GRCh37 |
| NC_000016.8:g.68845422G>T | NCBI36 |
| NG_023191.1:g.40492C>A , LRG_359:g.40492C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261772.13:c.2421C>A MANE Select | ENSP00000261772.8:p.Ile807= | |
| ENST00000565361.3:c.2514C>A | ENSP00000455360.3:p.Ile838= | |
| ENST00000569825.2:n.534C>A | ||
| ENST00000674512.1:c.2400C>A | ENSP00000501613.1:p.Ile800= | |
| ENST00000674652.1:c.*2210C>A | ENSP00000502620.1:n.*2210C>A | |
| ENST00000674691.1:c.2421C>A | ENSP00000502247.1:p.Ile807= | |
| ENST00000674768.1:c.*676C>A | ENSP00000501679.1:n.*676C>A | |
| ENST00000674811.1:c.*614C>A | ENSP00000502055.1:n.*614C>A | |
| ENST00000674848.1:n.2470C>A | ||
| ENST00000674962.1:n.4775C>A | ||
| ENST00000674963.1:c.2421C>A | ENSP00000501924.1:p.Ile807= | |
| ENST00000675035.1:c.*31C>A | ENSP00000502712.1:n.*31C>A | |
| ENST00000675045.1:c.2448C>A | ENSP00000502014.1:p.Ile816= | |
| ENST00000675120.1:c.*731C>A | ENSP00000502823.1:n.*731C>A | |
| ENST00000675133.1:c.2394C>A | ENSP00000502230.1:p.Ile798= | |
| ENST00000675270.1:n.2556C>A | ||
| ENST00000675297.1:c.*1355C>A | ENSP00000502753.1:n.*1355C>A | |
| ENST00000675371.1:c.*31C>A | ENSP00000502645.1:n.*31C>A | |
| ENST00000675403.1:n.3341C>A | ||
| ENST00000675569.1:c.*1655C>A | ENSP00000502534.1:n.*1655C>A | |
| ENST00000675588.1:n.1168C>A | ||
| ENST00000675643.1:c.2421C>A | ENSP00000502797.1:p.Ile807= | |
| ENST00000675691.1:c.2292C>A | ENSP00000502196.1:p.Ile764= | |
| ENST00000675751.1:c.*1448C>A | ENSP00000502277.1:n.*1448C>A | |
| ENST00000675853.1:c.2421C>A | ENSP00000502367.1:p.Ile807= | |
| ENST00000675917.1:n.2718C>A | ||
| ENST00000675953.1:c.2337C>A | ENSP00000502321.1:p.Ile779= | |
| ENST00000675986.1:n.2579C>A | ||
| ENST00000676004.1:c.*2420C>A | ENSP00000502765.1:n.*2420C>A | |
| ENST00000676040.1:c.*1655C>A | ENSP00000502108.1:n.*1655C>A | |
| ENST00000676168.1:c.*31C>A | ENSP00000502479.1:n.*31C>A | |
| ENST00000676209.1:c.*773C>A | ENSP00000502052.1:n.*773C>A | |
| ENST00000676211.1:c.*1448C>A | ENSP00000502726.1:n.*1448C>A | |
| ENST00000676212.1:c.*110C>A | ENSP00000501853.1:n.*110C>A | |
| ENST00000676247.1:c.*773C>A | ENSP00000502699.1:n.*773C>A | |
| ENST00000261772.12:c.2421C>A | ENSP00000261772.7:p.Ile807= | |
| ENST00000569825.1:n.427C>A | ||
| NM_001605.2:c.2421C>A , LRG_359t1:c.2421C>A | NP_001596.2:p.Ile807= | |
| XR_933220.1:n.2387C>A | ||
| XR_933220.3:n.2346C>A | ||
| NM_001605.3:c.2421C>A MANE Select | NP_001596.2:p.Ile807= |