Linked Data
ClinVar Variation Id:
387201
dbSNP Id:
rs141486562
ExAC:
16:70298948 C / T
gnomAD v2:
16-70298948-C-T
gnomAD v3:
16-70265045-C-T
gnomAD v4:
16-70265045-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70265045C>T , CM000678.2:g.70265045C>T | GRCh38 |
| NC_000016.9:g.70298948C>T , CM000678.1:g.70298948C>T | GRCh37 |
| NC_000016.8:g.68856449C>T | NCBI36 |
| NG_023191.1:g.29465G>A , LRG_359:g.29465G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261772.13:c.1405G>A MANE Select | ENSP00000261772.8:p.Ala469Thr | |
| ENST00000564359.6:n.1563G>A | ||
| ENST00000565361.3:c.1405G>A | ENSP00000455360.3:p.Ala469Thr | |
| ENST00000674512.1:c.1405G>A | ENSP00000501613.1:p.Ala469Thr | |
| ENST00000674652.1:c.*432G>A | ENSP00000502620.1:n.*432G>A | |
| ENST00000674691.1:c.1405G>A | ENSP00000502247.1:p.Ala469Thr | |
| ENST00000674768.1:c.1405G>A | ENSP00000501679.1:p.Ala469Thr | |
| ENST00000674811.1:c.962+4573G>A | ENSP00000502055.1:n.962+4573G>A | |
| ENST00000674848.1:n.1454G>A | ||
| ENST00000674962.1:n.1563G>A | ||
| ENST00000674963.1:c.1405G>A | ENSP00000501924.1:p.Ala469Thr | |
| ENST00000675035.1:c.1405G>A | ENSP00000502712.1:p.Ala469Thr | |
| ENST00000675045.1:c.1405G>A | ENSP00000502014.1:p.Ala469Thr | |
| ENST00000675120.1:c.1405G>A | ENSP00000502823.1:p.Ala469Thr | |
| ENST00000675133.1:c.1405G>A | ENSP00000502230.1:p.Ala469Thr | |
| ENST00000675270.1:n.1540G>A | ||
| ENST00000675297.1:c.1405G>A | ENSP00000502753.1:p.Ala469Thr | |
| ENST00000675338.1:n.1561G>A | ||
| ENST00000675371.1:c.1405G>A | ENSP00000502645.1:p.Ala469Thr | |
| ENST00000675403.1:n.1563G>A | ||
| ENST00000675569.1:c.*639G>A | ENSP00000502534.1:n.*639G>A | |
| ENST00000675643.1:c.1405G>A | ENSP00000502797.1:p.Ala469Thr | |
| ENST00000675691.1:c.1276G>A | ENSP00000502196.1:p.Ala426Thr | |
| ENST00000675751.1:c.*432G>A | ENSP00000502277.1:n.*432G>A | |
| ENST00000675853.1:c.1405G>A | ENSP00000502367.1:p.Ala469Thr | |
| ENST00000675917.1:n.1702G>A | ||
| ENST00000675953.1:c.1321G>A | ENSP00000502321.1:p.Ala441Thr | |
| ENST00000675986.1:n.1563G>A | ||
| ENST00000676004.1:c.*1404G>A | ENSP00000502765.1:n.*1404G>A | |
| ENST00000676040.1:c.*639G>A | ENSP00000502108.1:n.*639G>A | |
| ENST00000676168.1:c.1405G>A | ENSP00000502479.1:p.Ala469Thr | |
| ENST00000676209.1:c.1405G>A | ENSP00000502052.1:p.Ala469Thr | |
| ENST00000676211.1:c.*432G>A | ENSP00000502726.1:n.*432G>A | |
| ENST00000676212.1:c.1405G>A | ENSP00000501853.1:p.Ala469Thr | |
| ENST00000676247.1:c.1405G>A | ENSP00000502699.1:p.Ala469Thr | |
| ENST00000261772.12:c.1405G>A | ENSP00000261772.7:p.Ala469Thr | |
| ENST00000566969.1:n.471G>A | ||
| ENST00000569790.2:n.263+493G>A | ||
| NM_001605.2:c.1405G>A , LRG_359t1:c.1405G>A | NP_001596.2:p.Ala469Thr | |
| XR_933220.1:n.1556G>A | ||
| XR_933220.3:n.1515G>A | ||
| NM_001605.3:c.1405G>A MANE Select | NP_001596.2:p.Ala469Thr |