Revel Score:
ENST00000360184 (MANE Select)
0.549
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102038825G>A , CM000676.2:g.102038825G>A | GRCh38 |
| NC_000014.8:g.102505162G>A , CM000676.1:g.102505162G>A | GRCh37 |
| NC_000014.7:g.101574915G>A | NCBI36 |
| NG_008777.1:g.79298G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684561.1:c.*2642G>A | ENSP00000506816.1:n.*2642G>A | |
| ENST00000360184.10:c.11183G>A MANE Select | ENSP00000348965.4:p.Arg3728Gln | |
| ENST00000553701.1:n.347-2056C>T | ||
| ENST00000555800.2:n.357G>A | ||
| ENST00000557242.1:n.329-2056C>T | ||
| ENST00000557551.1:n.112-2056C>T | ||
| ENST00000643437.1:n.1137G>A | ||
| ENST00000643829.1:n.1012G>A | ||
| ENST00000644794.1:n.1302G>A | ||
| ENST00000644881.2:c.11183G>A | ENSP00000495022.2:p.Arg3728Gln | |
| ENST00000645039.2:c.11183G>A | ENSP00000495220.2:p.Arg3728Gln | |
| ENST00000645149.2:c.11036G>A | ENSP00000495944.2:p.Arg3679Gln | |
| ENST00000645697.1:n.1846G>A | ||
| ENST00000647204.2:n.424G>A | ||
| ENST00000647366.1:n.4737G>A | ||
| ENST00000679486.1:c.11183G>A | ENSP00000506688.1:p.Arg3728Gln | |
| ENST00000679629.1:c.11183G>A | ENSP00000505589.1:p.Arg3728Gln | |
| ENST00000679720.1:c.11183G>A | ENSP00000505938.1:p.Arg3728Gln | |
| ENST00000679910.1:c.*2265G>A | ENSP00000506521.1:n.*2265G>A | |
| ENST00000680120.1:c.11183G>A | ENSP00000504863.1:p.Arg3728Gln | |
| ENST00000680200.1:c.*442G>A | ENSP00000506166.1:n.*442G>A | |
| ENST00000680313.1:c.11183G>A | ENSP00000506208.1:p.Arg3728Gln | |
| ENST00000680423.1:c.*2914G>A | ENSP00000505483.1:n.*2914G>A | |
| ENST00000680715.1:c.11183G>A | ENSP00000505332.1:p.Arg3728Gln | |
| ENST00000680874.1:c.*411G>A | ENSP00000504911.1:n.*411G>A | |
| ENST00000681010.1:c.11183G>A | ENSP00000505201.1:p.Arg3728Gln | |
| ENST00000681066.1:c.11183G>A | ENSP00000506344.1:p.Arg3728Gln | |
| ENST00000681123.1:c.11183G>A | ENSP00000506124.1:p.Arg3728Gln | |
| ENST00000681283.1:c.11183G>A | ENSP00000505667.1:p.Arg3728Gln | |
| ENST00000681536.1:c.*4382G>A | ENSP00000505821.1:n.*4382G>A | |
| ENST00000681574.1:c.11183G>A | ENSP00000505523.1:p.Arg3728Gln | |
| ENST00000681822.1:c.11183G>A | ENSP00000505744.1:p.Arg3728Gln | |
| ENST00000360184.8:c.11183G>A | ENSP00000348965.4:p.Arg3728Gln | |
| ENST00000553423.1:c.462G>A | ||
| ENST00000555800.1:n.355G>A | ||
| NM_001376.4:c.11183G>A | NP_001367.2:p.Arg3728Gln | |
| XR_001750903.1:n.87+131C>T | ||
| NM_001376.5:c.11183G>A MANE Select | NP_001367.2:p.Arg3728Gln |