Revel Score:
ENST00000261772 (MANE Select)
0.814
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
8.4e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70267659C>G , CM000678.2:g.70267659C>G | GRCh38 |
| NC_000016.9:g.70301562C>G , CM000678.1:g.70301562C>G | GRCh37 |
| NC_000016.8:g.68859063C>G | NCBI36 |
| NG_023191.1:g.26851G>C , LRG_359:g.26851G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261772.13:c.1222G>C MANE Select | ENSP00000261772.8:p.Gly408Arg | |
| ENST00000564359.6:n.1380G>C | ||
| ENST00000565361.3:c.1222G>C | ENSP00000455360.3:p.Gly408Arg | |
| ENST00000674512.1:c.1222G>C | ENSP00000501613.1:p.Gly408Arg | |
| ENST00000674652.1:c.*249G>C | ENSP00000502620.1:n.*249G>C | |
| ENST00000674691.1:c.1222G>C | ENSP00000502247.1:p.Gly408Arg | |
| ENST00000674768.1:c.1222G>C | ENSP00000501679.1:p.Gly408Arg | |
| ENST00000674811.1:c.962+1959G>C | ENSP00000502055.1:n.962+1959G>C | |
| ENST00000674848.1:n.1271G>C | ||
| ENST00000674962.1:n.1380G>C | ||
| ENST00000674963.1:c.1222G>C | ENSP00000501924.1:p.Gly408Arg | |
| ENST00000675035.1:c.1222G>C | ENSP00000502712.1:p.Gly408Arg | |
| ENST00000675045.1:c.1222G>C | ENSP00000502014.1:p.Gly408Arg | |
| ENST00000675120.1:c.1222G>C | ENSP00000502823.1:p.Gly408Arg | |
| ENST00000675133.1:c.1222G>C | ENSP00000502230.1:p.Gly408Arg | |
| ENST00000675270.1:n.1357G>C | ||
| ENST00000675297.1:c.1222G>C | ENSP00000502753.1:p.Gly408Arg | |
| ENST00000675338.1:n.1378G>C | ||
| ENST00000675371.1:c.1222G>C | ENSP00000502645.1:p.Gly408Arg | |
| ENST00000675403.1:n.1380G>C | ||
| ENST00000675569.1:c.*456G>C | ENSP00000502534.1:n.*456G>C | |
| ENST00000675643.1:c.1222G>C | ENSP00000502797.1:p.Gly408Arg | |
| ENST00000675691.1:c.1093G>C | ENSP00000502196.1:p.Gly365Arg | |
| ENST00000675751.1:c.*249G>C | ENSP00000502277.1:n.*249G>C | |
| ENST00000675853.1:c.1222G>C | ENSP00000502367.1:p.Gly408Arg | |
| ENST00000675917.1:n.1519G>C | ||
| ENST00000675953.1:c.1138G>C | ENSP00000502321.1:p.Gly380Arg | |
| ENST00000675986.1:n.1380G>C | ||
| ENST00000676004.1:c.*1221G>C | ENSP00000502765.1:n.*1221G>C | |
| ENST00000676040.1:c.*456G>C | ENSP00000502108.1:n.*456G>C | |
| ENST00000676168.1:c.1222G>C | ENSP00000502479.1:p.Gly408Arg | |
| ENST00000676209.1:c.1222G>C | ENSP00000502052.1:p.Gly408Arg | |
| ENST00000676211.1:c.*249G>C | ENSP00000502726.1:n.*249G>C | |
| ENST00000676212.1:c.1222G>C | ENSP00000501853.1:p.Gly408Arg | |
| ENST00000676247.1:c.1222G>C | ENSP00000502699.1:p.Gly408Arg | |
| ENST00000261772.12:c.1222G>C | ENSP00000261772.7:p.Gly408Arg | |
| ENST00000569790.2:n.138G>C | ||
| NM_001605.2:c.1222G>C , LRG_359t1:c.1222G>C | NP_001596.2:p.Gly408Arg | |
| XR_933220.1:n.1373G>C | ||
| XR_933220.3:n.1332G>C | ||
| NM_001605.3:c.1222G>C MANE Select | NP_001596.2:p.Gly408Arg |