Revel Score:
ENST00000346178
0.939
ENST00000356638 (MANE Select)
0.939
ENST00000534779
0.939
ENST00000540933
0.939
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62630788C>A , CM000673.2:g.62630788C>A | GRCh38 |
| NC_000011.9:g.62398260C>A , CM000673.1:g.62398260C>A | GRCh37 |
| NC_000011.8:g.62154836C>A | NCBI36 |
| NG_053018.1:g.20939G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356638.8:c.1199G>T MANE Select | ENSP00000349053.3:p.Arg400Leu | |
| ENST00000648273.1:c.908G>T | ENSP00000497655.1:p.Arg303Leu | |
| ENST00000346178.8:c.1265G>T | ENSP00000340466.4:p.Arg422Leu | |
| ENST00000356638.7:c.1199G>T | ENSP00000349053.3:p.Arg400Leu | |
| ENST00000532402.5:c.*931G>T | ENSP00000432181.1:n.*931G>T | |
| ENST00000534779.5:c.923G>T | ENSP00000435306.1:p.Arg308Leu | |
| ENST00000540933.5:c.908G>T | ENSP00000442962.1:p.Arg303Leu | |
| NM_001278192.1:c.923G>T | NP_001265121.1:p.Arg308Leu | |
| NM_001278193.1:c.857G>T | NP_001265122.1:p.Arg286Leu | |
| NM_001278194.1:c.908G>T | NP_001265123.1:p.Arg303Leu | |
| NM_198334.2:c.1199G>T | NP_938148.1:p.Arg400Leu | |
| NM_198335.3:c.1265G>T | NP_938149.2:p.Arg422Leu | |
| NM_001329222.1:c.908G>T | NP_001316151.1:p.Arg303Leu | |
| NM_001329223.1:c.908G>T | NP_001316152.1:p.Arg303Leu | |
| NM_001329224.1:c.476G>T | NP_001316153.1:p.Arg159Leu | |
| NM_001329225.1:c.476G>T | NP_001316154.1:p.Arg159Leu | |
| XM_017017412.1:c.908G>T | XP_016872901.1:p.Arg303Leu | |
| NM_198334.3:c.1199G>T MANE Select | NP_938148.1:p.Arg400Leu | |
| NM_001278192.2:c.923G>T | NP_001265121.1:p.Arg308Leu | |
| NM_001278193.2:c.857G>T | NP_001265122.1:p.Arg286Leu | |
| NM_001329223.2:c.908G>T | NP_001316152.1:p.Arg303Leu | |
| NM_001329225.2:c.476G>T | NP_001316154.1:p.Arg159Leu | |
| NM_198335.4:c.1265G>T | NP_938149.2:p.Arg422Leu | |
| NM_001278194.2:c.908G>T | NP_001265123.1:p.Arg303Leu | |
| NM_001329222.2:c.908G>T | NP_001316151.1:p.Arg303Leu | |
| NM_001329224.2:c.476G>T | NP_001316153.1:p.Arg159Leu |