Revel Score:
ENST00000316673 (MANE Select)
0.983
ENST00000457232
0.983
ENST00000316099
0.983
ENST00000443598
0.983
ENST00000338692
0.983
ENST00000415691
0.983
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44406196G>C , CM000682.2:g.44406196G>C | GRCh38 |
| NC_000020.10:g.43034836G>C , CM000682.1:g.43034836G>C | GRCh37 |
| NC_000020.9:g.42468250G>C | NCBI36 |
| NG_009818.1:g.55396G>C , LRG_483:g.55396G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316673.9:c.188G>C MANE Select | ENSP00000315180.4:p.Arg63Pro | |
| ENST00000316099.10:c.254G>C | ENSP00000312987.3:p.Arg85Pro | |
| ENST00000619550.5:c.228G>C | ||
| ENST00000681977.1:c.230G>C | ENSP00000507189.1:p.Arg77Pro | |
| ENST00000682169.1:c.207G>C | ||
| ENST00000683148.1:n.230G>C | ||
| ENST00000683657.1:n.230G>C | ||
| ENST00000684046.1:c.230G>C | ENSP00000507555.1:p.Arg77Pro | |
| ENST00000684136.1:c.230G>C | ENSP00000507389.1:p.Arg77Pro | |
| ENST00000684476.1:c.211G>C | ENSP00000507529.1:p.Gly71Arg | |
| ENST00000316099.9:c.254G>C | ENSP00000312987.3:p.Arg85Pro | |
| ENST00000316099.8:c.254G>C | ENSP00000312987.3:p.Arg85Pro | |
| ENST00000316673.8:c.188G>C | ENSP00000315180.4:p.Arg63Pro | |
| ENST00000372920.1:c.*21G>C | ENSP00000362011.1:n.*21G>C | |
| ENST00000415691.2:c.254G>C | ENSP00000412111.1:p.Arg85Pro | |
| ENST00000443598.6:c.254G>C | ENSP00000410911.2:p.Arg85Pro | |
| ENST00000457232.5:c.188G>C | ENSP00000396216.1:p.Arg63Pro | |
| ENST00000609262.5:c.179G>C | ENSP00000476310.1:p.Arg60Pro | |
| ENST00000609795.5:c.188G>C | ENSP00000476609.1:p.Arg63Pro | |
| ENST00000619550.4:c.179G>C | ENSP00000481331.1:p.Arg60Pro | |
| NM_000457.4:c.254G>C , LRG_483t2:c.254G>C | NP_000448.3:p.Arg85Pro | |
| NM_001030003.2:c.188G>C | NP_001025174.1:p.Arg63Pro | |
| NM_001030004.2:c.188G>C | NP_001025175.1:p.Arg63Pro | |
| NM_001258355.1:c.233G>C | NP_001245284.1:p.Arg78Pro | |
| NM_001287182.1:c.179G>C | NP_001274111.1:p.Arg60Pro | |
| NM_001287183.1:c.179G>C , LRG_483t3:c.179G>C | NP_001274112.1:p.Arg60Pro | |
| NM_001287184.1:c.179G>C | NP_001274113.1:p.Arg60Pro | |
| NM_175914.4:c.188G>C , LRG_483t1:c.188G>C | NP_787110.2:p.Arg63Pro | |
| NM_178849.2:c.254G>C | NP_849180.1:p.Arg85Pro | |
| NM_178850.2:c.254G>C | NP_849181.1:p.Arg85Pro | |
| XM_005260407.2:c.371G>C | XP_005260464.1:p.Arg124Pro | |
| XM_011528797.1:c.302G>C | XP_011527099.1:p.Arg101Pro | |
| XM_011528798.1:c.302G>C | XP_011527100.1:p.Arg101Pro | |
| XM_005260407.4:c.371G>C | XP_005260464.1:p.Arg124Pro | |
| NM_001030003.3:c.188G>C | NP_001025174.1:p.Arg63Pro | |
| NM_001030004.3:c.188G>C | NP_001025175.1:p.Arg63Pro | |
| NM_001258355.2:c.233G>C | NP_001245284.1:p.Arg78Pro | |
| NM_001287182.2:c.179G>C | NP_001274111.1:p.Arg60Pro | |
| NM_001287184.2:c.179G>C | NP_001274113.1:p.Arg60Pro | |
| NM_178849.3:c.254G>C | NP_849180.1:p.Arg85Pro | |
| NM_178850.3:c.254G>C | NP_849181.1:p.Arg85Pro | |
| NM_000457.5:c.254G>C | NP_000448.3:p.Arg85Pro | |
| NM_000457.6:c.254G>C | NP_000448.3:p.Arg85Pro | |
| NM_001287183.2:c.179G>C | NP_001274112.1:p.Arg60Pro | |
| NM_175914.5:c.188G>C MANE Select | NP_787110.2:p.Arg63Pro |