Revel Score:
ENST00000357162 (MANE Select)
0.750
ENST00000358544 (MANE Plus Clinical)
0.750
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99818485G>C , CM000670.2:g.99818485G>C | GRCh38 |
| NC_000008.10:g.100830713G>C , CM000670.1:g.100830713G>C | GRCh37 |
| NC_000008.9:g.100899889G>C | NCBI36 |
| NG_007098.2:g.810220G>C , LRG_351:g.810220G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.8471G>C | ENSP00000507923.1:p.Trp2824Ser | |
| ENST00000682358.1:n.8541G>C | ||
| ENST00000683334.1:c.*4153G>C | ENSP00000507369.1:n.*4153G>C | |
| ENST00000357162.7:c.8396G>C MANE Select | ENSP00000349685.2:p.Trp2799Ser | |
| ENST00000358544.7:c.8471G>C MANE Plus Clinical | ENSP00000351346.2:p.Trp2824Ser | |
| ENST00000357162.6:c.8396G>C | ENSP00000349685.2:p.Trp2799Ser | |
| ENST00000358544.6:c.8471G>C | ENSP00000351346.2:p.Trp2824Ser | |
| NM_017890.4:c.8471G>C , LRG_351t1:c.8471G>C | NP_060360.3:p.Trp2824Ser | |
| NM_152564.4:c.8396G>C , LRG_351t2:c.8396G>C | NP_689777.3:p.Trp2799Ser | |
| XM_005250800.2:c.8471G>C | XP_005250857.1:p.Trp2824Ser | |
| XM_005250801.3:c.8471G>C | XP_005250858.1:p.Trp2824Ser | |
| XM_011516848.1:c.8468G>C | XP_011515150.1:p.Trp2823Ser | |
| XM_011516849.1:c.8393G>C | XP_011515151.1:p.Trp2798Ser | |
| XM_011516850.1:c.8093G>C | XP_011515152.1:p.Trp2698Ser | |
| XM_011516851.1:c.5357G>C | XP_011515153.1:p.Trp1786Ser | |
| XM_011516852.1:c.5357G>C | XP_011515154.1:p.Trp1786Ser | |
| XM_011516854.1:c.4250G>C | XP_011515156.1:p.Trp1417Ser | |
| XM_005250800.3:c.8471G>C | XP_005250857.1:p.Trp2824Ser | |
| XM_005250801.5:c.8471G>C | XP_005250858.1:p.Trp2824Ser | |
| XM_011516848.2:c.8468G>C | XP_011515150.1:p.Trp2823Ser | |
| XM_011516849.2:c.8393G>C | XP_011515151.1:p.Trp2798Ser | |
| XM_011516850.2:c.8093G>C | XP_011515152.1:p.Trp2698Ser | |
| XM_011516851.2:c.5357G>C | XP_011515153.1:p.Trp1786Ser | |
| XM_011516852.2:c.5357G>C | XP_011515154.1:p.Trp1786Ser | |
| XM_011516854.2:c.4250G>C | XP_011515156.1:p.Trp1417Ser | |
| XM_017013109.1:c.8276G>C | XP_016868598.1:p.Trp2759Ser | |
| XM_017013111.1:c.5357G>C | XP_016868600.1:p.Trp1786Ser | |
| XM_017013112.1:c.4028G>C | XP_016868601.1:p.Trp1343Ser | |
| XM_024447074.1:c.7256G>C | XP_024302842.1:p.Trp2419Ser | |
| NM_017890.5:c.8471G>C MANE Plus Clinical | NP_060360.3:p.Trp2824Ser | |
| NM_152564.5:c.8396G>C MANE Select | NP_689777.3:p.Trp2799Ser |