Linked Data
ClinVar Variation Id:
476726
dbSNP Id:
rs527414180
ExAC:
16:70302244 T / A
gnomAD v2:
16-70302244-T-A
gnomAD v3:
16-70268341-T-A
gnomAD v4:
16-70268341-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70268341T>A , CM000678.2:g.70268341T>A | GRCh38 |
| NC_000016.9:g.70302244T>A , CM000678.1:g.70302244T>A | GRCh37 |
| NC_000016.8:g.68859745T>A | NCBI36 |
| NG_023191.1:g.26169A>T , LRG_359:g.26169A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261772.13:c.1001A>T MANE Select | ENSP00000261772.8:p.Tyr334Phe | |
| ENST00000564359.6:n.1159A>T | ||
| ENST00000565361.3:c.1001A>T | ENSP00000455360.3:p.Tyr334Phe | |
| ENST00000674512.1:c.1001A>T | ENSP00000501613.1:p.Tyr334Phe | |
| ENST00000674652.1:c.*28A>T | ENSP00000502620.1:n.*28A>T | |
| ENST00000674691.1:c.1001A>T | ENSP00000502247.1:p.Tyr334Phe | |
| ENST00000674768.1:c.1001A>T | ENSP00000501679.1:p.Tyr334Phe | |
| ENST00000674811.1:c.962+1277A>T | ENSP00000502055.1:n.962+1277A>T | |
| ENST00000674848.1:n.1050A>T | ||
| ENST00000674962.1:n.1159A>T | ||
| ENST00000674963.1:c.1001A>T | ENSP00000501924.1:p.Tyr334Phe | |
| ENST00000675035.1:c.1001A>T | ENSP00000502712.1:p.Tyr334Phe | |
| ENST00000675045.1:c.1001A>T | ENSP00000502014.1:p.Tyr334Phe | |
| ENST00000675120.1:c.1001A>T | ENSP00000502823.1:p.Tyr334Phe | |
| ENST00000675133.1:c.1001A>T | ENSP00000502230.1:p.Tyr334Phe | |
| ENST00000675270.1:n.1136A>T | ||
| ENST00000675297.1:c.1001A>T | ENSP00000502753.1:p.Tyr334Phe | |
| ENST00000675338.1:n.1157A>T | ||
| ENST00000675371.1:c.1001A>T | ENSP00000502645.1:p.Tyr334Phe | |
| ENST00000675403.1:n.1159A>T | ||
| ENST00000675569.1:c.*235A>T | ENSP00000502534.1:n.*235A>T | |
| ENST00000675643.1:c.1001A>T | ENSP00000502797.1:p.Tyr334Phe | |
| ENST00000675691.1:c.872A>T | ENSP00000502196.1:p.Tyr291Phe | |
| ENST00000675751.1:c.*28A>T | ENSP00000502277.1:n.*28A>T | |
| ENST00000675853.1:c.1001A>T | ENSP00000502367.1:p.Tyr334Phe | |
| ENST00000675917.1:n.1298A>T | ||
| ENST00000675953.1:c.917A>T | ENSP00000502321.1:p.Tyr306Phe | |
| ENST00000675986.1:n.1159A>T | ||
| ENST00000676004.1:c.*1000A>T | ENSP00000502765.1:n.*1000A>T | |
| ENST00000676040.1:c.*235A>T | ENSP00000502108.1:n.*235A>T | |
| ENST00000676168.1:c.1001A>T | ENSP00000502479.1:p.Tyr334Phe | |
| ENST00000676209.1:c.1001A>T | ENSP00000502052.1:p.Tyr334Phe | |
| ENST00000676211.1:c.*28A>T | ENSP00000502726.1:n.*28A>T | |
| ENST00000676212.1:c.1001A>T | ENSP00000501853.1:p.Tyr334Phe | |
| ENST00000676247.1:c.1001A>T | ENSP00000502699.1:p.Tyr334Phe | |
| ENST00000261772.12:c.1001A>T | ENSP00000261772.7:p.Tyr334Phe | |
| NM_001605.2:c.1001A>T , LRG_359t1:c.1001A>T | NP_001596.2:p.Tyr334Phe | |
| XR_933220.1:n.1152A>T | ||
| XR_933220.3:n.1111A>T | ||
| NM_001605.3:c.1001A>T MANE Select | NP_001596.2:p.Tyr334Phe |