Revel Score:
ENST00000261799 (MANE Select)
0.966
ENST00000544453
0.966
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150125501G>C , CM000667.2:g.150125501G>C | GRCh38 |
| NC_000005.9:g.149505064G>C , CM000667.1:g.149505064G>C | GRCh37 |
| NC_000005.8:g.149485257G>C | NCBI36 |
| NG_023367.1:g.35359C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261799.9:c.1751C>G MANE Select | ENSP00000261799.4:p.Pro584Arg | |
| ENST00000261799.8:c.1751C>G | ENSP00000261799.4:p.Pro584Arg | |
| ENST00000520229.1:n.20C>G | ||
| ENST00000520579.5:c.*1065C>G | ENSP00000430026.1:n.*1065C>G | |
| NM_002609.3:c.1751C>G | NP_002600.1:p.Pro584Arg | |
| XM_005268464.2:c.1559C>G | XP_005268521.1:p.Pro520Arg | |
| XM_011537658.1:c.1751C>G | XP_011535960.1:p.Pro584Arg | |
| XM_011537659.1:c.1751C>G | XP_011535961.1:p.Pro584Arg | |
| XM_011537660.1:c.1751C>G | XP_011535962.1:p.Pro584Arg | |
| NM_001355016.1:c.1559C>G | NP_001341945.1:p.Pro520Arg | |
| NM_001355017.1:c.1268C>G | NP_001341946.1:p.Pro423Arg | |
| NM_002609.4:c.1751C>G MANE Select | NP_002600.1:p.Pro584Arg | |
| NM_001355016.2:c.1559C>G | NP_001341945.1:p.Pro520Arg | |
| NM_001355017.2:c.1268C>G | NP_001341946.1:p.Pro423Arg |