Linked Data
ClinVar Variation Id:
320325
dbSNP Id:
rs4081753
ExAC:
16:70287177 A / G
gnomAD v2:
16-70287177-A-G
gnomAD v3:
16-70253274-A-G
gnomAD v4:
16-70253274-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70253274A>G , CM000678.2:g.70253274A>G | GRCh38 |
| NC_000016.9:g.70287177A>G , CM000678.1:g.70287177A>G | GRCh37 |
| NC_000016.8:g.68844678A>G | NCBI36 |
| NG_023191.1:g.41236T>C , LRG_359:g.41236T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261772.13:c.2715T>C MANE Select | ENSP00000261772.8:p.Val905= | |
| ENST00000565361.3:c.2808T>C | ENSP00000455360.3:p.Val936= | |
| ENST00000569825.2:n.1160T>C | ||
| ENST00000674512.1:c.2694T>C | ENSP00000501613.1:p.Val898= | |
| ENST00000674652.1:c.*2504T>C | ENSP00000502620.1:n.*2504T>C | |
| ENST00000674691.1:c.2715T>C | ENSP00000502247.1:p.Val905= | |
| ENST00000674768.1:c.*1302T>C | ENSP00000501679.1:n.*1302T>C | |
| ENST00000674811.1:c.*908T>C | ENSP00000502055.1:n.*908T>C | |
| ENST00000674848.1:n.3096T>C | ||
| ENST00000674962.1:n.5401T>C | ||
| ENST00000674963.1:c.2715T>C | ENSP00000501924.1:p.Val905= | |
| ENST00000675035.1:c.*325T>C | ENSP00000502712.1:n.*325T>C | |
| ENST00000675045.1:c.2742T>C | ENSP00000502014.1:p.Val914= | |
| ENST00000675120.1:c.*1025T>C | ENSP00000502823.1:n.*1025T>C | |
| ENST00000675133.1:c.2688T>C | ENSP00000502230.1:p.Val896= | |
| ENST00000675270.1:n.2850T>C | ||
| ENST00000675297.1:c.*1981T>C | ENSP00000502753.1:n.*1981T>C | |
| ENST00000675371.1:c.*657T>C | ENSP00000502645.1:n.*657T>C | |
| ENST00000675403.1:n.3635T>C | ||
| ENST00000675569.1:c.*1949T>C | ENSP00000502534.1:n.*1949T>C | |
| ENST00000675588.1:n.1462T>C | ||
| ENST00000675643.1:c.2715T>C | ENSP00000502797.1:p.Val905= | |
| ENST00000675691.1:c.2586T>C | ENSP00000502196.1:p.Val862= | |
| ENST00000675751.1:c.*2074T>C | ENSP00000502277.1:n.*2074T>C | |
| ENST00000675853.1:c.2763T>C | ENSP00000502367.1:p.Val921= | |
| ENST00000675917.1:n.3012T>C | ||
| ENST00000675953.1:c.2631T>C | ENSP00000502321.1:p.Val877= | |
| ENST00000675986.1:n.3205T>C | ||
| ENST00000676004.1:c.*2714T>C | ENSP00000502765.1:n.*2714T>C | |
| ENST00000676040.1:c.*1949T>C | ENSP00000502108.1:n.*1949T>C | |
| ENST00000676168.1:c.*325T>C | ENSP00000502479.1:n.*325T>C | |
| ENST00000676209.1:c.*1067T>C | ENSP00000502052.1:n.*1067T>C | |
| ENST00000676211.1:c.*1742T>C | ENSP00000502726.1:n.*1742T>C | |
| ENST00000676212.1:c.*404T>C | ENSP00000501853.1:n.*404T>C | |
| ENST00000676247.1:c.*1399T>C | ENSP00000502699.1:n.*1399T>C | |
| ENST00000261772.12:c.2715T>C | ENSP00000261772.7:p.Val905= | |
| NM_001605.2:c.2715T>C , LRG_359t1:c.2715T>C | NP_001596.2:p.Val905= | |
| XR_933220.1:n.2681T>C | ||
| XR_933220.3:n.2640T>C | ||
| NM_001605.3:c.2715T>C MANE Select | NP_001596.2:p.Val905= |