Linked Data
ClinVar Variation Id:
284186
dbSNP Id:
rs866956348
gnomAD v2:
16-70292066-G-A
gnomAD v3:
16-70258163-G-A
gnomAD v4:
16-70258163-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70258163G>A , CM000678.2:g.70258163G>A | GRCh38 |
| NC_000016.9:g.70292066G>A , CM000678.1:g.70292066G>A | GRCh37 |
| NC_000016.8:g.68849567G>A | NCBI36 |
| NG_023191.1:g.36347C>T , LRG_359:g.36347C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261772.13:c.2047C>T MANE Select | ENSP00000261772.8:p.Arg683Trp | |
| ENST00000564359.6:n.2150+817C>T | ||
| ENST00000565361.3:c.2047C>T | ENSP00000455360.3:p.Arg683Trp | |
| ENST00000674512.1:c.2026C>T | ENSP00000501613.1:p.Arg676Trp | |
| ENST00000674652.1:c.*1836C>T | ENSP00000502620.1:n.*1836C>T | |
| ENST00000674691.1:c.2047C>T | ENSP00000502247.1:p.Arg683Trp | |
| ENST00000674768.1:c.*302C>T | ENSP00000501679.1:n.*302C>T | |
| ENST00000674811.1:c.*240C>T | ENSP00000502055.1:n.*240C>T | |
| ENST00000674848.1:n.2096C>T | ||
| ENST00000674962.1:n.2205C>T | ||
| ENST00000674963.1:c.2047C>T | ENSP00000501924.1:p.Arg683Trp | |
| ENST00000675035.1:c.2047C>T | ENSP00000502712.1:p.Arg683Trp | |
| ENST00000675045.1:c.2074C>T | ENSP00000502014.1:p.Arg692Trp | |
| ENST00000675120.1:c.*357C>T | ENSP00000502823.1:n.*357C>T | |
| ENST00000675133.1:c.2020C>T | ENSP00000502230.1:p.Arg674Trp | |
| ENST00000675270.1:n.2182C>T | ||
| ENST00000675297.1:c.*399C>T | ENSP00000502753.1:n.*399C>T | |
| ENST00000675371.1:c.1992+817C>T | ENSP00000502645.1:n.1992+817C>T | |
| ENST00000675403.1:n.2967C>T | ||
| ENST00000675569.1:c.*1281C>T | ENSP00000502534.1:n.*1281C>T | |
| ENST00000675643.1:c.2047C>T | ENSP00000502797.1:p.Arg683Trp | |
| ENST00000675691.1:c.1918C>T | ENSP00000502196.1:p.Arg640Trp | |
| ENST00000675751.1:c.*1074C>T | ENSP00000502277.1:n.*1074C>T | |
| ENST00000675853.1:c.2047C>T | ENSP00000502367.1:p.Arg683Trp | |
| ENST00000675917.1:n.2344C>T | ||
| ENST00000675953.1:c.1963C>T | ENSP00000502321.1:p.Arg655Trp | |
| ENST00000675986.1:n.2205C>T | ||
| ENST00000676004.1:c.*2046C>T | ENSP00000502765.1:n.*2046C>T | |
| ENST00000676040.1:c.*1281C>T | ENSP00000502108.1:n.*1281C>T | |
| ENST00000676168.1:c.1992+817C>T | ENSP00000502479.1:n.1992+817C>T | |
| ENST00000676209.1:c.*399C>T | ENSP00000502052.1:n.*399C>T | |
| ENST00000676211.1:c.*1074C>T | ENSP00000502726.1:n.*1074C>T | |
| ENST00000676212.1:c.2047C>T | ENSP00000501853.1:p.Arg683Trp | |
| ENST00000676247.1:c.*399C>T | ENSP00000502699.1:n.*399C>T | |
| ENST00000261772.12:c.2047C>T | ENSP00000261772.7:p.Arg683Trp | |
| ENST00000564359.5:n.488+817C>T | ||
| ENST00000565361.2:c.392C>T | ||
| ENST00000569825.1:n.53C>T | ||
| NM_001605.2:c.2047C>T , LRG_359t1:c.2047C>T | NP_001596.2:p.Arg683Trp | |
| XR_933220.1:n.2143+817C>T | ||
| XR_933220.3:n.2102+817C>T | ||
| NM_001605.3:c.2047C>T MANE Select | NP_001596.2:p.Arg683Trp |