Linked Data
ClinVar Variation Id:
373315
dbSNP Id:
rs368191672
ExAC:
16:70292024 C / T
gnomAD v2:
16-70292024-C-T
gnomAD v3:
16-70258121-C-T
gnomAD v4:
16-70258121-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70258121C>T , CM000678.2:g.70258121C>T | GRCh38 |
| NC_000016.9:g.70292024C>T , CM000678.1:g.70292024C>T | GRCh37 |
| NC_000016.8:g.68849525C>T | NCBI36 |
| NG_023191.1:g.36389G>A , LRG_359:g.36389G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261772.13:c.2089G>A MANE Select | ENSP00000261772.8:p.Val697Ile | |
| ENST00000564359.6:n.2150+859G>A | ||
| ENST00000565361.3:c.2089G>A | ENSP00000455360.3:p.Val697Ile | |
| ENST00000674512.1:c.2068G>A | ENSP00000501613.1:p.Val690Ile | |
| ENST00000674652.1:c.*1878G>A | ENSP00000502620.1:n.*1878G>A | |
| ENST00000674691.1:c.2089G>A | ENSP00000502247.1:p.Val697Ile | |
| ENST00000674768.1:c.*344G>A | ENSP00000501679.1:n.*344G>A | |
| ENST00000674811.1:c.*282G>A | ENSP00000502055.1:n.*282G>A | |
| ENST00000674848.1:n.2138G>A | ||
| ENST00000674962.1:n.2247G>A | ||
| ENST00000674963.1:c.2089G>A | ENSP00000501924.1:p.Val697Ile | |
| ENST00000675035.1:c.2089G>A | ENSP00000502712.1:p.Val697Ile | |
| ENST00000675045.1:c.2116G>A | ENSP00000502014.1:p.Val706Ile | |
| ENST00000675120.1:c.*399G>A | ENSP00000502823.1:n.*399G>A | |
| ENST00000675133.1:c.2062G>A | ENSP00000502230.1:p.Val688Ile | |
| ENST00000675270.1:n.2224G>A | ||
| ENST00000675297.1:c.*441G>A | ENSP00000502753.1:n.*441G>A | |
| ENST00000675371.1:c.1992+859G>A | ENSP00000502645.1:n.1992+859G>A | |
| ENST00000675403.1:n.3009G>A | ||
| ENST00000675569.1:c.*1323G>A | ENSP00000502534.1:n.*1323G>A | |
| ENST00000675643.1:c.2089G>A | ENSP00000502797.1:p.Val697Ile | |
| ENST00000675691.1:c.1960G>A | ENSP00000502196.1:p.Val654Ile | |
| ENST00000675751.1:c.*1116G>A | ENSP00000502277.1:n.*1116G>A | |
| ENST00000675853.1:c.2089G>A | ENSP00000502367.1:p.Val697Ile | |
| ENST00000675917.1:n.2386G>A | ||
| ENST00000675953.1:c.2005G>A | ENSP00000502321.1:p.Val669Ile | |
| ENST00000675986.1:n.2247G>A | ||
| ENST00000676004.1:c.*2088G>A | ENSP00000502765.1:n.*2088G>A | |
| ENST00000676040.1:c.*1323G>A | ENSP00000502108.1:n.*1323G>A | |
| ENST00000676168.1:c.1992+859G>A | ENSP00000502479.1:n.1992+859G>A | |
| ENST00000676209.1:c.*441G>A | ENSP00000502052.1:n.*441G>A | |
| ENST00000676211.1:c.*1116G>A | ENSP00000502726.1:n.*1116G>A | |
| ENST00000676212.1:c.2089G>A | ENSP00000501853.1:p.Val697Ile | |
| ENST00000676247.1:c.*441G>A | ENSP00000502699.1:n.*441G>A | |
| ENST00000261772.12:c.2089G>A | ENSP00000261772.7:p.Val697Ile | |
| ENST00000564359.5:n.488+859G>A | ||
| ENST00000565361.2:c.434G>A | ||
| ENST00000569825.1:n.95G>A | ||
| NM_001605.2:c.2089G>A , LRG_359t1:c.2089G>A | NP_001596.2:p.Val697Ile | |
| XR_933220.1:n.2143+859G>A | ||
| XR_933220.3:n.2102+859G>A | ||
| NM_001605.3:c.2089G>A MANE Select | NP_001596.2:p.Val697Ile |