Linked Data
ClinVar Variation Id:
320326
dbSNP Id:
rs140814462
ExAC:
16:70287192 C / T
gnomAD v2:
16-70287192-C-T
gnomAD v3:
16-70253289-C-T
gnomAD v4:
16-70253289-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70253289C>T , CM000678.2:g.70253289C>T | GRCh38 |
| NC_000016.9:g.70287192C>T , CM000678.1:g.70287192C>T | GRCh37 |
| NC_000016.8:g.68844693C>T | NCBI36 |
| NG_023191.1:g.41221G>A , LRG_359:g.41221G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261772.13:c.2700G>A MANE Select | ENSP00000261772.8:p.Thr900= | |
| ENST00000565361.3:c.2793G>A | ENSP00000455360.3:p.Thr931= | |
| ENST00000569825.2:n.1145G>A | ||
| ENST00000674512.1:c.2679G>A | ENSP00000501613.1:p.Thr893= | |
| ENST00000674652.1:c.*2489G>A | ENSP00000502620.1:n.*2489G>A | |
| ENST00000674691.1:c.2700G>A | ENSP00000502247.1:p.Thr900= | |
| ENST00000674768.1:c.*1287G>A | ENSP00000501679.1:n.*1287G>A | |
| ENST00000674811.1:c.*893G>A | ENSP00000502055.1:n.*893G>A | |
| ENST00000674848.1:n.3081G>A | ||
| ENST00000674962.1:n.5386G>A | ||
| ENST00000674963.1:c.2700G>A | ENSP00000501924.1:p.Thr900= | |
| ENST00000675035.1:c.*310G>A | ENSP00000502712.1:n.*310G>A | |
| ENST00000675045.1:c.2727G>A | ENSP00000502014.1:p.Thr909= | |
| ENST00000675120.1:c.*1010G>A | ENSP00000502823.1:n.*1010G>A | |
| ENST00000675133.1:c.2673G>A | ENSP00000502230.1:p.Thr891= | |
| ENST00000675270.1:n.2835G>A | ||
| ENST00000675297.1:c.*1966G>A | ENSP00000502753.1:n.*1966G>A | |
| ENST00000675371.1:c.*642G>A | ENSP00000502645.1:n.*642G>A | |
| ENST00000675403.1:n.3620G>A | ||
| ENST00000675569.1:c.*1934G>A | ENSP00000502534.1:n.*1934G>A | |
| ENST00000675588.1:n.1447G>A | ||
| ENST00000675643.1:c.2700G>A | ENSP00000502797.1:p.Thr900= | |
| ENST00000675691.1:c.2571G>A | ENSP00000502196.1:p.Thr857= | |
| ENST00000675751.1:c.*2059G>A | ENSP00000502277.1:n.*2059G>A | |
| ENST00000675853.1:c.2748G>A | ENSP00000502367.1:p.Thr916= | |
| ENST00000675917.1:n.2997G>A | ||
| ENST00000675953.1:c.2616G>A | ENSP00000502321.1:p.Thr872= | |
| ENST00000675986.1:n.3190G>A | ||
| ENST00000676004.1:c.*2699G>A | ENSP00000502765.1:n.*2699G>A | |
| ENST00000676040.1:c.*1934G>A | ENSP00000502108.1:n.*1934G>A | |
| ENST00000676168.1:c.*310G>A | ENSP00000502479.1:n.*310G>A | |
| ENST00000676209.1:c.*1052G>A | ENSP00000502052.1:n.*1052G>A | |
| ENST00000676211.1:c.*1727G>A | ENSP00000502726.1:n.*1727G>A | |
| ENST00000676212.1:c.*389G>A | ENSP00000501853.1:n.*389G>A | |
| ENST00000676247.1:c.*1384G>A | ENSP00000502699.1:n.*1384G>A | |
| ENST00000261772.12:c.2700G>A | ENSP00000261772.7:p.Thr900= | |
| NM_001605.2:c.2700G>A , LRG_359t1:c.2700G>A | NP_001596.2:p.Thr900= | |
| XR_933220.1:n.2666G>A | ||
| XR_933220.3:n.2625G>A | ||
| NM_001605.3:c.2700G>A MANE Select | NP_001596.2:p.Thr900= |