Revel Score:
ENST00000295754 (MANE Select)
0.966
ENST00000359013
0.966
ENST00000439925
0.966
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30674130C>G , CM000665.2:g.30674130C>G | GRCh38 |
| NC_000003.11:g.30715622C>G , CM000665.1:g.30715622C>G | GRCh37 |
| NC_000003.10:g.30690626C>G | NCBI36 |
| NG_007490.1:g.72629C>G , LRG_779:g.72629C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.1280C>G MANE Select | ENSP00000295754.5:p.Pro427Arg | |
| ENST00000672866.1:n.2876C>G | ||
| ENST00000673203.1:n.158C>G | ||
| ENST00000295754.9:c.1280C>G | ENSP00000295754.5:p.Pro427Arg | |
| ENST00000359013.4:c.1355C>G | ENSP00000351905.4:p.Pro452Arg | |
| NM_001024847.2:c.1355C>G , LRG_779t1:c.1355C>G | NP_001020018.1:p.Pro452Arg | |
| NM_003242.5:c.1280C>G | NP_003233.4:p.Pro427Arg | |
| XM_011534043.1:c.1307C>G | XP_011532345.1:p.Pro436Arg | |
| XM_011534044.1:c.1232C>G | XP_011532346.1:p.Pro411Arg | |
| XM_011534045.1:c.1175C>G | XP_011532347.1:p.Pro392Arg | |
| XM_011534043.2:c.1307C>G | XP_011532345.1:p.Pro436Arg | |
| XM_011534045.3:c.1175C>G | XP_011532347.1:p.Pro392Arg | |
| XM_017007106.1:c.1175C>G | XP_016862595.1:p.Pro392Arg | |
| NM_003242.6:c.1280C>G MANE Select | NP_003233.4:p.Pro427Arg |