Revel Score:
ENST00000377205 (MANE Select)
0.715
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002313 (NFE)
Genomes Max Group AF
0.00003761 (NFE)
Exomes Max Group AF
0.00001998 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.9982480C>T , CM000663.2:g.9982480C>T | GRCh38 |
| NC_000001.10:g.10042538C>T , CM000663.1:g.10042538C>T | GRCh37 |
| NC_000001.9:g.9965125C>T | NCBI36 |
| NG_032954.1:g.44053C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377205.6:c.619C>T MANE Select | ENSP00000366410.1:p.Arg207Trp | |
| ENST00000377205.5:c.619C>T | ENSP00000366410.1:p.Arg207Trp | |
| ENST00000462686.1:c.619C>T | ENSP00000435134.1:p.Arg207Trp | |
| ENST00000496751.1:c.119+1310C>T | ||
| NM_001297778.1:c.619C>T | NP_001284707.1:p.Arg207Trp | |
| NM_022787.3:c.619C>T | NP_073624.2:p.Arg207Trp | |
| XM_011541971.1:c.439+1310C>T | XP_011540273.1:n.439+1310C>T | |
| XM_011541971.2:c.439+1310C>T | XP_011540273.1:n.439+1310C>T | |
| XM_017002107.2:c.619C>T | XP_016857596.1:p.Arg207Trp | |
| XM_017002108.2:c.439+1310C>T | XP_016857597.1:n.439+1310C>T | |
| NM_022787.4:c.619C>T MANE Select | NP_073624.2:p.Arg207Trp |