Linked Data
ClinVar Variation Id:
264996
dbSNP Id:
rs749217453
gnomAD v2:
16-70289699-C-G
gnomAD v3:
16-70255796-C-G
gnomAD v4:
16-70255796-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70255796C>G , CM000678.2:g.70255796C>G | GRCh38 |
| NC_000016.9:g.70289699C>G , CM000678.1:g.70289699C>G | GRCh37 |
| NC_000016.8:g.68847200C>G | NCBI36 |
| NG_023191.1:g.38714G>C , LRG_359:g.38714G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261772.13:c.2218G>C MANE Select | ENSP00000261772.8:p.Val740Leu | |
| ENST00000564359.6:n.2191G>C | ||
| ENST00000565361.3:c.2218G>C | ENSP00000455360.3:p.Val740Leu | |
| ENST00000674512.1:c.2197G>C | ENSP00000501613.1:p.Val733Leu | |
| ENST00000674652.1:c.*2007G>C | ENSP00000502620.1:n.*2007G>C | |
| ENST00000674691.1:c.2218G>C | ENSP00000502247.1:p.Val740Leu | |
| ENST00000674768.1:c.*473G>C | ENSP00000501679.1:n.*473G>C | |
| ENST00000674811.1:c.*411G>C | ENSP00000502055.1:n.*411G>C | |
| ENST00000674848.1:n.2267G>C | ||
| ENST00000674962.1:n.4572G>C | ||
| ENST00000674963.1:c.2218G>C | ENSP00000501924.1:p.Val740Leu | |
| ENST00000675035.1:c.2198G>C | ENSP00000502712.1:p.Arg733Pro | |
| ENST00000675045.1:c.2245G>C | ENSP00000502014.1:p.Val749Leu | |
| ENST00000675120.1:c.*528G>C | ENSP00000502823.1:n.*528G>C | |
| ENST00000675133.1:c.2191G>C | ENSP00000502230.1:p.Val731Leu | |
| ENST00000675270.1:n.2353G>C | ||
| ENST00000675297.1:c.*570G>C | ENSP00000502753.1:n.*570G>C | |
| ENST00000675371.1:c.2033G>C | ENSP00000502645.1:p.Arg678Pro | |
| ENST00000675403.1:n.3138G>C | ||
| ENST00000675569.1:c.*1452G>C | ENSP00000502534.1:n.*1452G>C | |
| ENST00000675643.1:c.2218G>C | ENSP00000502797.1:p.Val740Leu | |
| ENST00000675691.1:c.2089G>C | ENSP00000502196.1:p.Val697Leu | |
| ENST00000675751.1:c.*1245G>C | ENSP00000502277.1:n.*1245G>C | |
| ENST00000675853.1:c.2218G>C | ENSP00000502367.1:p.Val740Leu | |
| ENST00000675917.1:n.2515G>C | ||
| ENST00000675953.1:c.2134G>C | ENSP00000502321.1:p.Val712Leu | |
| ENST00000675986.1:n.2376G>C | ||
| ENST00000676004.1:c.*2217G>C | ENSP00000502765.1:n.*2217G>C | |
| ENST00000676040.1:c.*1452G>C | ENSP00000502108.1:n.*1452G>C | |
| ENST00000676065.1:n.535G>C | ||
| ENST00000676168.1:c.2033G>C | ENSP00000502479.1:p.Arg678Pro | |
| ENST00000676209.1:c.*570G>C | ENSP00000502052.1:n.*570G>C | |
| ENST00000676211.1:c.*1245G>C | ENSP00000502726.1:n.*1245G>C | |
| ENST00000676212.1:c.2218G>C | ENSP00000501853.1:p.Val740Leu | |
| ENST00000676247.1:c.*570G>C | ENSP00000502699.1:n.*570G>C | |
| ENST00000261772.12:c.2218G>C | ENSP00000261772.7:p.Val740Leu | |
| ENST00000564359.5:n.529G>C | ||
| ENST00000565361.2:c.563G>C | ||
| ENST00000569825.1:n.224G>C | ||
| NM_001605.2:c.2218G>C , LRG_359t1:c.2218G>C | NP_001596.2:p.Val740Leu | |
| XR_933220.1:n.2184G>C | ||
| XR_933220.3:n.2143G>C | ||
| NM_001605.3:c.2218G>C MANE Select | NP_001596.2:p.Val740Leu |