Revel Score:
ENST00000252486 (MANE Select)
0.571
ENST00000446996
0.571
ENST00000434152
0.571
ENST00000425718
0.571
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44907853T>G , CM000681.2:g.44907853T>G | GRCh38 |
| NC_000019.9:g.45411110T>G , CM000681.1:g.45411110T>G | GRCh37 |
| NC_000019.8:g.50102950T>G | NCBI36 |
| NG_007084.2:g.7072T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252486.9:c.137T>G MANE Select | ENSP00000252486.3:p.Leu46Arg | |
| ENST00000252486.8:c.137T>G | ENSP00000252486.3:p.Leu46Arg | |
| ENST00000425718.1:c.137T>G | ENSP00000410423.1:p.Leu46Arg | |
| ENST00000434152.5:c.215T>G | ENSP00000413653.2:p.Leu72Arg | |
| ENST00000446996.5:c.137T>G | ENSP00000413135.1:p.Leu46Arg | |
| NM_000041.3:c.137T>G | NP_000032.1:p.Leu46Arg | |
| NM_001302688.1:c.215T>G | NP_001289617.1:p.Leu72Arg | |
| NM_001302689.1:c.137T>G | NP_001289618.1:p.Leu46Arg | |
| NM_001302690.1:c.137T>G | NP_001289619.1:p.Leu46Arg | |
| NM_001302691.1:c.137T>G | NP_001289620.1:p.Leu46Arg | |
| NM_000041.4:c.137T>G MANE Select | NP_000032.1:p.Leu46Arg | |
| NM_001302688.2:c.215T>G | NP_001289617.1:p.Leu72Arg | |
| NM_001302689.2:c.137T>G | NP_001289618.1:p.Leu46Arg | |
| NM_001302691.2:c.137T>G | NP_001289620.1:p.Leu46Arg | |
| NM_001302690.2:c.137T>G | NP_001289619.1:p.Leu46Arg |