Revel Score:
ENST00000377252 (MANE Select)
0.047
ENST00000377242
0.047
ENST00000377238
0.047
ENST00000536022
0.047
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.20245461A>T , CM000672.2:g.20245461A>T | GRCh38 |
| NC_000010.10:g.20534390A>T , CM000672.1:g.20534390A>T | GRCh37 |
| NC_000010.9:g.20574396A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377252.5:c.1429A>T MANE Select | ENSP00000366460.3:p.Met477Leu | |
| ENST00000377238.2:n.1204A>T | ||
| ENST00000377242.7:c.1282A>T | ENSP00000366450.3:p.Met428Leu | |
| ENST00000377252.4:c.1429A>T | ENSP00000366460.3:p.Met477Leu | |
| NM_001282736.1:c.1282A>T | NP_001269665.1:p.Met428Leu | |
| NM_032812.8:c.1429A>T | NP_116201.7:p.Met477Leu | |
| XM_011519750.1:c.1429A>T | XP_011518052.1:p.Met477Leu | |
| XM_011519750.2:c.1429A>T | XP_011518052.1:p.Met477Leu | |
| NM_032812.9:c.1429A>T MANE Select | NP_116201.7:p.Met477Leu | |
| NM_001282736.2:c.1282A>T | NP_001269665.1:p.Met428Leu |