Revel Score:
ENST00000397641 (MANE Select)
0.816
ENST00000215862
0.816
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.30946372C>A , CM000684.2:g.30946372C>A | GRCh38 |
| NC_000022.10:g.31342359C>A , CM000684.1:g.31342359C>A | GRCh37 |
| NC_000022.9:g.29672359C>A | NCBI36 |
| NG_046752.1:g.27126G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397641.8:c.395G>T MANE Select | ENSP00000380763.2:p.Arg132Leu | |
| ENST00000675601.1:n.237G>T | ||
| ENST00000215862.8:c.209G>T | ENSP00000215862.4:p.Arg70Leu | |
| ENST00000397641.7:c.395G>T | ENSP00000380763.2:p.Arg132Leu | |
| ENST00000476152.2:n.517G>T | ||
| NM_001303256.1:c.395G>T | NP_001290185.1:p.Arg132Leu | |
| NM_001303257.1:c.395G>T | NP_001290186.1:p.Arg132Leu | |
| NM_014941.2:c.209G>T | NP_055756.1:p.Arg70Leu | |
| XM_011530003.1:c.419G>T | XP_011528305.1:p.Arg140Leu | |
| XM_011530004.1:c.410G>T | XP_011528306.1:p.Arg137Leu | |
| XM_011530005.1:c.419G>T | XP_011528307.1:p.Arg140Leu | |
| XM_011530006.1:c.260G>T | XP_011528308.1:p.Arg87Leu | |
| NM_001303256.2:c.395G>T | NP_001290185.1:p.Arg132Leu | |
| NM_001303257.2:c.395G>T | NP_001290186.1:p.Arg132Leu | |
| NM_014941.3:c.209G>T | NP_055756.1:p.Arg70Leu | |
| XM_011530004.2:c.410G>T | XP_011528306.1:p.Arg137Leu | |
| XM_017028667.2:c.410G>T | XP_016884156.1:p.Arg137Leu | |
| NM_001303256.3:c.395G>T MANE Select | NP_001290185.1:p.Arg132Leu |