Linked Data
ClinVar Variation Id:
388683
dbSNP Id:
rs767405300
ExAC:
16:70289679 G / A
gnomAD v2:
16-70289679-G-A
gnomAD v3:
16-70255776-G-A
gnomAD v4:
16-70255776-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70255776G>A , CM000678.2:g.70255776G>A | GRCh38 |
| NC_000016.9:g.70289679G>A , CM000678.1:g.70289679G>A | GRCh37 |
| NC_000016.8:g.68847180G>A | NCBI36 |
| NG_023191.1:g.38734C>T , LRG_359:g.38734C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261772.13:c.2238C>T MANE Select | ENSP00000261772.8:p.Ala746= | |
| ENST00000564359.6:n.2211C>T | ||
| ENST00000565361.3:c.2238C>T | ENSP00000455360.3:p.Ala746= | |
| ENST00000674512.1:c.2217C>T | ENSP00000501613.1:p.Ala739= | |
| ENST00000674652.1:c.*2027C>T | ENSP00000502620.1:n.*2027C>T | |
| ENST00000674691.1:c.2238C>T | ENSP00000502247.1:p.Ala746= | |
| ENST00000674768.1:c.*493C>T | ENSP00000501679.1:n.*493C>T | |
| ENST00000674811.1:c.*431C>T | ENSP00000502055.1:n.*431C>T | |
| ENST00000674848.1:n.2287C>T | ||
| ENST00000674962.1:n.4592C>T | ||
| ENST00000674963.1:c.2238C>T | ENSP00000501924.1:p.Ala746= | |
| ENST00000675035.1:c.2218C>T | ENSP00000502712.1:p.Gln740Ter | |
| ENST00000675045.1:c.2265C>T | ENSP00000502014.1:p.Ala755= | |
| ENST00000675120.1:c.*548C>T | ENSP00000502823.1:n.*548C>T | |
| ENST00000675133.1:c.2211C>T | ENSP00000502230.1:p.Ala737= | |
| ENST00000675270.1:n.2373C>T | ||
| ENST00000675297.1:c.*590C>T | ENSP00000502753.1:n.*590C>T | |
| ENST00000675371.1:c.2053C>T | ENSP00000502645.1:p.Gln685Ter | |
| ENST00000675403.1:n.3158C>T | ||
| ENST00000675569.1:c.*1472C>T | ENSP00000502534.1:n.*1472C>T | |
| ENST00000675643.1:c.2238C>T | ENSP00000502797.1:p.Ala746= | |
| ENST00000675691.1:c.2109C>T | ENSP00000502196.1:p.Ala703= | |
| ENST00000675751.1:c.*1265C>T | ENSP00000502277.1:n.*1265C>T | |
| ENST00000675853.1:c.2238C>T | ENSP00000502367.1:p.Ala746= | |
| ENST00000675917.1:n.2535C>T | ||
| ENST00000675953.1:c.2154C>T | ENSP00000502321.1:p.Ala718= | |
| ENST00000675986.1:n.2396C>T | ||
| ENST00000676004.1:c.*2237C>T | ENSP00000502765.1:n.*2237C>T | |
| ENST00000676040.1:c.*1472C>T | ENSP00000502108.1:n.*1472C>T | |
| ENST00000676065.1:n.555C>T | ||
| ENST00000676168.1:c.2053C>T | ENSP00000502479.1:p.Gln685Ter | |
| ENST00000676209.1:c.*590C>T | ENSP00000502052.1:n.*590C>T | |
| ENST00000676211.1:c.*1265C>T | ENSP00000502726.1:n.*1265C>T | |
| ENST00000676212.1:c.2238C>T | ENSP00000501853.1:p.Ala746= | |
| ENST00000676247.1:c.*590C>T | ENSP00000502699.1:n.*590C>T | |
| ENST00000261772.12:c.2238C>T | ENSP00000261772.7:p.Ala746= | |
| ENST00000564359.5:n.549C>T | ||
| ENST00000565361.2:c.583C>T | ||
| ENST00000569825.1:n.244C>T | ||
| NM_001605.2:c.2238C>T , LRG_359t1:c.2238C>T | NP_001596.2:p.Ala746= | |
| XR_933220.1:n.2204C>T | ||
| XR_933220.3:n.2163C>T | ||
| NM_001605.3:c.2238C>T MANE Select | NP_001596.2:p.Ala746= |