Linked Data
ClinVar Variation Id:
204300
ClinVar RCV Id:
RCV000192254
dbSNP Id:
rs797044801
PubMed:
PMID:20301462
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70254688T>G , CM000678.2:g.70254688T>G | GRCh38 |
| NC_000016.9:g.70288591T>G , CM000678.1:g.70288591T>G | GRCh37 |
| NC_000016.8:g.68846092T>G | NCBI36 |
| NG_023191.1:g.39822A>C , LRG_359:g.39822A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261772.13:c.2333A>C MANE Select | ENSP00000261772.8:p.Glu778Ala | |
| ENST00000565361.3:c.2333A>C | ENSP00000455360.3:p.Glu778Ala | |
| ENST00000569825.2:n.446A>C | ||
| ENST00000674512.1:c.2312A>C | ENSP00000501613.1:p.Glu771Ala | |
| ENST00000674652.1:c.*2122A>C | ENSP00000502620.1:n.*2122A>C | |
| ENST00000674691.1:c.2333A>C | ENSP00000502247.1:p.Glu778Ala | |
| ENST00000674768.1:c.*588A>C | ENSP00000501679.1:n.*588A>C | |
| ENST00000674811.1:c.*526A>C | ENSP00000502055.1:n.*526A>C | |
| ENST00000674848.1:n.2382A>C | ||
| ENST00000674962.1:n.4687A>C | ||
| ENST00000674963.1:c.2333A>C | ENSP00000501924.1:p.Glu778Ala | |
| ENST00000675035.1:c.2313A>C | ENSP00000502712.1:p.Gly771= | |
| ENST00000675045.1:c.2360A>C | ENSP00000502014.1:p.Glu787Ala | |
| ENST00000675120.1:c.*643A>C | ENSP00000502823.1:n.*643A>C | |
| ENST00000675133.1:c.2306A>C | ENSP00000502230.1:p.Glu769Ala | |
| ENST00000675270.1:n.2468A>C | ||
| ENST00000675297.1:c.*685A>C | ENSP00000502753.1:n.*685A>C | |
| ENST00000675371.1:c.2148A>C | ENSP00000502645.1:p.Gly716= | |
| ENST00000675403.1:n.3253A>C | ||
| ENST00000675569.1:c.*1567A>C | ENSP00000502534.1:n.*1567A>C | |
| ENST00000675588.1:n.498A>C | ||
| ENST00000675643.1:c.2333A>C | ENSP00000502797.1:p.Glu778Ala | |
| ENST00000675691.1:c.2204A>C | ENSP00000502196.1:p.Glu735Ala | |
| ENST00000675751.1:c.*1360A>C | ENSP00000502277.1:n.*1360A>C | |
| ENST00000675853.1:c.2333A>C | ENSP00000502367.1:p.Glu778Ala | |
| ENST00000675917.1:n.2630A>C | ||
| ENST00000675953.1:c.2249A>C | ENSP00000502321.1:p.Glu750Ala | |
| ENST00000675986.1:n.2491A>C | ||
| ENST00000676004.1:c.*2332A>C | ENSP00000502765.1:n.*2332A>C | |
| ENST00000676040.1:c.*1567A>C | ENSP00000502108.1:n.*1567A>C | |
| ENST00000676065.1:n.650A>C | ||
| ENST00000676168.1:c.2148A>C | ENSP00000502479.1:p.Gly716= | |
| ENST00000676209.1:c.*685A>C | ENSP00000502052.1:n.*685A>C | |
| ENST00000676211.1:c.*1360A>C | ENSP00000502726.1:n.*1360A>C | |
| ENST00000676212.1:c.*22A>C | ENSP00000501853.1:n.*22A>C | |
| ENST00000676247.1:c.*685A>C | ENSP00000502699.1:n.*685A>C | |
| ENST00000261772.12:c.2333A>C | ENSP00000261772.7:p.Glu778Ala | |
| ENST00000565361.2:c.678A>C | ||
| ENST00000569825.1:n.339A>C | ||
| NM_001605.2:c.2333A>C , LRG_359t1:c.2333A>C | NP_001596.2:p.Glu778Ala | |
| XR_933220.1:n.2299A>C | ||
| XR_933220.3:n.2258A>C | ||
| NM_001605.3:c.2333A>C MANE Select | NP_001596.2:p.Glu778Ala |