Revel Score:
ENST00000540413
0.942
ENST00000263431 (MANE Select)
0.942
ENST00000542049
0.942
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53906728T>C , CM000681.2:g.53906728T>C | GRCh38 |
| NC_000019.9:g.54409982T>C , CM000681.1:g.54409982T>C | GRCh37 |
| NC_000019.8:g.59101794T>C | NCBI36 |
| NG_009114.1:g.29516T>C , LRG_669:g.29516T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682028.1:c.1927T>C | ENSP00000507230.1:p.Phe643Leu | |
| ENST00000682676.1:n.1328T>C | ||
| ENST00000683513.1:c.1819T>C | ENSP00000506809.1:p.Phe607Leu | |
| ENST00000263431.4:c.1927T>C MANE Select | ENSP00000263431.3:p.Phe643Leu | |
| ENST00000263431.3:c.1927T>C | ENSP00000263431.3:p.Phe643Leu | |
| NM_001316329.1:c.1927T>C | NP_001303258.1:p.Phe643Leu | |
| NM_002739.3:c.1927T>C , LRG_669t1:c.1927T>C | NP_002730.1:p.Phe643Leu | |
| NM_002739.4:c.1927T>C | NP_002730.1:p.Phe643Leu | |
| XM_011527108.1:c.1018T>C | XP_011525410.1:p.Phe340Leu | |
| NM_002739.5:c.1927T>C MANE Select | NP_002730.1:p.Phe643Leu | |
| NM_001316329.2:c.1927T>C | NP_001303258.1:p.Phe643Leu |