Linked Data
ClinVar Variation Id:
320332
dbSNP Id:
rs770980206
ExAC:
16:70289700 G / A
gnomAD v2:
16-70289700-G-A
gnomAD v3:
16-70255797-G-A
gnomAD v4:
16-70255797-G-A
COSMIC:
COSM4646987
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70255797G>A , CM000678.2:g.70255797G>A | GRCh38 |
| NC_000016.9:g.70289700G>A , CM000678.1:g.70289700G>A | GRCh37 |
| NC_000016.8:g.68847201G>A | NCBI36 |
| NG_023191.1:g.38713C>T , LRG_359:g.38713C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261772.13:c.2217C>T MANE Select | ENSP00000261772.8:p.Ile739= | |
| ENST00000564359.6:n.2190C>T | ||
| ENST00000565361.3:c.2217C>T | ENSP00000455360.3:p.Ile739= | |
| ENST00000674512.1:c.2196C>T | ENSP00000501613.1:p.Ile732= | |
| ENST00000674652.1:c.*2006C>T | ENSP00000502620.1:n.*2006C>T | |
| ENST00000674691.1:c.2217C>T | ENSP00000502247.1:p.Ile739= | |
| ENST00000674768.1:c.*472C>T | ENSP00000501679.1:n.*472C>T | |
| ENST00000674811.1:c.*410C>T | ENSP00000502055.1:n.*410C>T | |
| ENST00000674848.1:n.2266C>T | ||
| ENST00000674962.1:n.4571C>T | ||
| ENST00000674963.1:c.2217C>T | ENSP00000501924.1:p.Ile739= | |
| ENST00000675035.1:c.2197C>T | ENSP00000502712.1:p.Arg733Cys | |
| ENST00000675045.1:c.2244C>T | ENSP00000502014.1:p.Ile748= | |
| ENST00000675120.1:c.*527C>T | ENSP00000502823.1:n.*527C>T | |
| ENST00000675133.1:c.2190C>T | ENSP00000502230.1:p.Ile730= | |
| ENST00000675270.1:n.2352C>T | ||
| ENST00000675297.1:c.*569C>T | ENSP00000502753.1:n.*569C>T | |
| ENST00000675371.1:c.2032C>T | ENSP00000502645.1:p.Arg678Cys | |
| ENST00000675403.1:n.3137C>T | ||
| ENST00000675569.1:c.*1451C>T | ENSP00000502534.1:n.*1451C>T | |
| ENST00000675643.1:c.2217C>T | ENSP00000502797.1:p.Ile739= | |
| ENST00000675691.1:c.2088C>T | ENSP00000502196.1:p.Ile696= | |
| ENST00000675751.1:c.*1244C>T | ENSP00000502277.1:n.*1244C>T | |
| ENST00000675853.1:c.2217C>T | ENSP00000502367.1:p.Ile739= | |
| ENST00000675917.1:n.2514C>T | ||
| ENST00000675953.1:c.2133C>T | ENSP00000502321.1:p.Ile711= | |
| ENST00000675986.1:n.2375C>T | ||
| ENST00000676004.1:c.*2216C>T | ENSP00000502765.1:n.*2216C>T | |
| ENST00000676040.1:c.*1451C>T | ENSP00000502108.1:n.*1451C>T | |
| ENST00000676065.1:n.534C>T | ||
| ENST00000676168.1:c.2032C>T | ENSP00000502479.1:p.Arg678Cys | |
| ENST00000676209.1:c.*569C>T | ENSP00000502052.1:n.*569C>T | |
| ENST00000676211.1:c.*1244C>T | ENSP00000502726.1:n.*1244C>T | |
| ENST00000676212.1:c.2217C>T | ENSP00000501853.1:p.Ile739= | |
| ENST00000676247.1:c.*569C>T | ENSP00000502699.1:n.*569C>T | |
| ENST00000261772.12:c.2217C>T | ENSP00000261772.7:p.Ile739= | |
| ENST00000564359.5:n.528C>T | ||
| ENST00000565361.2:c.562C>T | ||
| ENST00000569825.1:n.223C>T | ||
| NM_001605.2:c.2217C>T , LRG_359t1:c.2217C>T | NP_001596.2:p.Ile739= | |
| XR_933220.1:n.2183C>T | ||
| XR_933220.3:n.2142C>T | ||
| NM_001605.3:c.2217C>T MANE Select | NP_001596.2:p.Ile739= |