Linked Data
ClinVar Variation Id:
220930
dbSNP Id:
rs147319762
ExAC:
16:70287883 T / C
gnomAD v2:
16-70287883-T-C
gnomAD v3:
16-70253980-T-C
gnomAD v4:
16-70253980-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70253980T>C , CM000678.2:g.70253980T>C | GRCh38 |
| NC_000016.9:g.70287883T>C , CM000678.1:g.70287883T>C | GRCh37 |
| NC_000016.8:g.68845384T>C | NCBI36 |
| NG_023191.1:g.40530A>G , LRG_359:g.40530A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261772.13:c.2459A>G MANE Select | ENSP00000261772.8:p.Lys820Arg | |
| ENST00000565361.3:c.2552A>G | ENSP00000455360.3:p.Lys851Arg | |
| ENST00000569825.2:n.572A>G | ||
| ENST00000674512.1:c.2438A>G | ENSP00000501613.1:p.Lys813Arg | |
| ENST00000674652.1:c.*2248A>G | ENSP00000502620.1:n.*2248A>G | |
| ENST00000674691.1:c.2459A>G | ENSP00000502247.1:p.Lys820Arg | |
| ENST00000674768.1:c.*714A>G | ENSP00000501679.1:n.*714A>G | |
| ENST00000674811.1:c.*652A>G | ENSP00000502055.1:n.*652A>G | |
| ENST00000674848.1:n.2508A>G | ||
| ENST00000674962.1:n.4813A>G | ||
| ENST00000674963.1:c.2459A>G | ENSP00000501924.1:p.Lys820Arg | |
| ENST00000675035.1:c.*69A>G | ENSP00000502712.1:n.*69A>G | |
| ENST00000675045.1:c.2486A>G | ENSP00000502014.1:p.Lys829Arg | |
| ENST00000675120.1:c.*769A>G | ENSP00000502823.1:n.*769A>G | |
| ENST00000675133.1:c.2432A>G | ENSP00000502230.1:p.Lys811Arg | |
| ENST00000675270.1:n.2594A>G | ||
| ENST00000675297.1:c.*1393A>G | ENSP00000502753.1:n.*1393A>G | |
| ENST00000675371.1:c.*69A>G | ENSP00000502645.1:n.*69A>G | |
| ENST00000675403.1:n.3379A>G | ||
| ENST00000675569.1:c.*1693A>G | ENSP00000502534.1:n.*1693A>G | |
| ENST00000675588.1:n.1206A>G | ||
| ENST00000675643.1:c.2459A>G | ENSP00000502797.1:p.Lys820Arg | |
| ENST00000675691.1:c.2330A>G | ENSP00000502196.1:p.Lys777Arg | |
| ENST00000675751.1:c.*1486A>G | ENSP00000502277.1:n.*1486A>G | |
| ENST00000675853.1:c.2459A>G | ENSP00000502367.1:p.Lys820Arg | |
| ENST00000675917.1:n.2756A>G | ||
| ENST00000675953.1:c.2375A>G | ENSP00000502321.1:p.Lys792Arg | |
| ENST00000675986.1:n.2617A>G | ||
| ENST00000676004.1:c.*2458A>G | ENSP00000502765.1:n.*2458A>G | |
| ENST00000676040.1:c.*1693A>G | ENSP00000502108.1:n.*1693A>G | |
| ENST00000676168.1:c.*69A>G | ENSP00000502479.1:n.*69A>G | |
| ENST00000676209.1:c.*811A>G | ENSP00000502052.1:n.*811A>G | |
| ENST00000676211.1:c.*1486A>G | ENSP00000502726.1:n.*1486A>G | |
| ENST00000676212.1:c.*148A>G | ENSP00000501853.1:n.*148A>G | |
| ENST00000676247.1:c.*811A>G | ENSP00000502699.1:n.*811A>G | |
| ENST00000261772.12:c.2459A>G | ENSP00000261772.7:p.Lys820Arg | |
| ENST00000569825.1:n.465A>G | ||
| NM_001605.2:c.2459A>G , LRG_359t1:c.2459A>G | NP_001596.2:p.Lys820Arg | |
| XR_933220.1:n.2425A>G | ||
| XR_933220.3:n.2384A>G | ||
| NM_001605.3:c.2459A>G MANE Select | NP_001596.2:p.Lys820Arg |