Linked Data
ClinVar Variation Id:
246148
dbSNP Id:
rs148383122
ExAC:
16:70289695 G / A
gnomAD v2:
16-70289695-G-A
gnomAD v3:
16-70255792-G-A
gnomAD v4:
16-70255792-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70255792G>A , CM000678.2:g.70255792G>A | GRCh38 |
| NC_000016.9:g.70289695G>A , CM000678.1:g.70289695G>A | GRCh37 |
| NC_000016.8:g.68847196G>A | NCBI36 |
| NG_023191.1:g.38718C>T , LRG_359:g.38718C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261772.13:c.2222C>T MANE Select | ENSP00000261772.8:p.Thr741Met | |
| ENST00000564359.6:n.2195C>T | ||
| ENST00000565361.3:c.2222C>T | ENSP00000455360.3:p.Thr741Met | |
| ENST00000674512.1:c.2201C>T | ENSP00000501613.1:p.Thr734Met | |
| ENST00000674652.1:c.*2011C>T | ENSP00000502620.1:n.*2011C>T | |
| ENST00000674691.1:c.2222C>T | ENSP00000502247.1:p.Thr741Met | |
| ENST00000674768.1:c.*477C>T | ENSP00000501679.1:n.*477C>T | |
| ENST00000674811.1:c.*415C>T | ENSP00000502055.1:n.*415C>T | |
| ENST00000674848.1:n.2271C>T | ||
| ENST00000674962.1:n.4576C>T | ||
| ENST00000674963.1:c.2222C>T | ENSP00000501924.1:p.Thr741Met | |
| ENST00000675035.1:c.2202C>T | ENSP00000502712.1:p.Asp734= | |
| ENST00000675045.1:c.2249C>T | ENSP00000502014.1:p.Thr750Met | |
| ENST00000675120.1:c.*532C>T | ENSP00000502823.1:n.*532C>T | |
| ENST00000675133.1:c.2195C>T | ENSP00000502230.1:p.Thr732Met | |
| ENST00000675270.1:n.2357C>T | ||
| ENST00000675297.1:c.*574C>T | ENSP00000502753.1:n.*574C>T | |
| ENST00000675371.1:c.2037C>T | ENSP00000502645.1:p.Asp679= | |
| ENST00000675403.1:n.3142C>T | ||
| ENST00000675569.1:c.*1456C>T | ENSP00000502534.1:n.*1456C>T | |
| ENST00000675643.1:c.2222C>T | ENSP00000502797.1:p.Thr741Met | |
| ENST00000675691.1:c.2093C>T | ENSP00000502196.1:p.Thr698Met | |
| ENST00000675751.1:c.*1249C>T | ENSP00000502277.1:n.*1249C>T | |
| ENST00000675853.1:c.2222C>T | ENSP00000502367.1:p.Thr741Met | |
| ENST00000675917.1:n.2519C>T | ||
| ENST00000675953.1:c.2138C>T | ENSP00000502321.1:p.Thr713Met | |
| ENST00000675986.1:n.2380C>T | ||
| ENST00000676004.1:c.*2221C>T | ENSP00000502765.1:n.*2221C>T | |
| ENST00000676040.1:c.*1456C>T | ENSP00000502108.1:n.*1456C>T | |
| ENST00000676065.1:n.539C>T | ||
| ENST00000676168.1:c.2037C>T | ENSP00000502479.1:p.Asp679= | |
| ENST00000676209.1:c.*574C>T | ENSP00000502052.1:n.*574C>T | |
| ENST00000676211.1:c.*1249C>T | ENSP00000502726.1:n.*1249C>T | |
| ENST00000676212.1:c.2222C>T | ENSP00000501853.1:p.Thr741Met | |
| ENST00000676247.1:c.*574C>T | ENSP00000502699.1:n.*574C>T | |
| ENST00000261772.12:c.2222C>T | ENSP00000261772.7:p.Thr741Met | |
| ENST00000564359.5:n.533C>T | ||
| ENST00000565361.2:c.567C>T | ||
| ENST00000569825.1:n.228C>T | ||
| NM_001605.2:c.2222C>T , LRG_359t1:c.2222C>T | NP_001596.2:p.Thr741Met | |
| XR_933220.1:n.2188C>T | ||
| XR_933220.3:n.2147C>T | ||
| NM_001605.3:c.2222C>T MANE Select | NP_001596.2:p.Thr741Met |