Linked Data
ClinVar Variation Id:
220723
dbSNP Id:
rs35744709
ExAC:
16:70286631 T / A
gnomAD v2:
16-70286631-T-A
gnomAD v3:
16-70252728-T-A
gnomAD v4:
16-70252728-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70252728T>A , CM000678.2:g.70252728T>A | GRCh38 |
| NC_000016.9:g.70286631T>A , CM000678.1:g.70286631T>A | GRCh37 |
| NC_000016.8:g.68844132T>A | NCBI36 |
| NG_023191.1:g.41782A>T , LRG_359:g.41782A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261772.13:c.2900A>T MANE Select | ENSP00000261772.8:p.Lys967Met | |
| ENST00000565361.3:c.2993A>T | ENSP00000455360.3:p.Lys998Met | |
| ENST00000569825.2:n.1345A>T | ||
| ENST00000674512.1:c.2879A>T | ENSP00000501613.1:p.Lys960Met | |
| ENST00000674652.1:c.*2689A>T | ENSP00000502620.1:n.*2689A>T | |
| ENST00000674691.1:c.2900A>T | ENSP00000502247.1:p.Lys967Met | |
| ENST00000674768.1:c.*1487A>T | ENSP00000501679.1:n.*1487A>T | |
| ENST00000674811.1:c.*1093A>T | ENSP00000502055.1:n.*1093A>T | |
| ENST00000674848.1:n.3281A>T | ||
| ENST00000674962.1:n.5586A>T | ||
| ENST00000674963.1:c.2900A>T | ENSP00000501924.1:p.Lys967Met | |
| ENST00000675035.1:c.*510A>T | ENSP00000502712.1:n.*510A>T | |
| ENST00000675045.1:c.2927A>T | ENSP00000502014.1:p.Lys976Met | |
| ENST00000675120.1:c.*1210A>T | ENSP00000502823.1:n.*1210A>T | |
| ENST00000675133.1:c.2873A>T | ENSP00000502230.1:p.Lys958Met | |
| ENST00000675270.1:n.3035A>T | ||
| ENST00000675297.1:c.*2166A>T | ENSP00000502753.1:n.*2166A>T | |
| ENST00000675371.1:c.*842A>T | ENSP00000502645.1:n.*842A>T | |
| ENST00000675403.1:n.3820A>T | ||
| ENST00000675569.1:c.*2134A>T | ENSP00000502534.1:n.*2134A>T | |
| ENST00000675588.1:n.1647A>T | ||
| ENST00000675643.1:c.2900A>T | ENSP00000502797.1:p.Lys967Met | |
| ENST00000675691.1:c.2771A>T | ENSP00000502196.1:p.Lys924Met | |
| ENST00000675751.1:c.*2259A>T | ENSP00000502277.1:n.*2259A>T | |
| ENST00000675853.1:c.2948A>T | ENSP00000502367.1:p.Lys983Met | |
| ENST00000675917.1:n.3197A>T | ||
| ENST00000675953.1:c.2816A>T | ENSP00000502321.1:p.Lys939Met | |
| ENST00000675986.1:n.3390A>T | ||
| ENST00000676004.1:c.*2899A>T | ENSP00000502765.1:n.*2899A>T | |
| ENST00000676040.1:c.*2134A>T | ENSP00000502108.1:n.*2134A>T | |
| ENST00000676168.1:c.*510A>T | ENSP00000502479.1:n.*510A>T | |
| ENST00000676209.1:c.*1252A>T | ENSP00000502052.1:n.*1252A>T | |
| ENST00000676211.1:c.*1927A>T | ENSP00000502726.1:n.*1927A>T | |
| ENST00000676212.1:c.*589A>T | ENSP00000501853.1:n.*589A>T | |
| ENST00000676247.1:c.*1584A>T | ENSP00000502699.1:n.*1584A>T | |
| ENST00000261772.12:c.2900A>T | ENSP00000261772.7:p.Lys967Met | |
| NM_001605.2:c.2900A>T , LRG_359t1:c.2900A>T | NP_001596.2:p.Lys967Met | |
| XR_933220.1:n.2866A>T | ||
| XR_933220.3:n.2825A>T | ||
| NM_001605.3:c.2900A>T MANE Select | NP_001596.2:p.Lys967Met |