Revel Score:
ENST00000366560 (MANE Select)
0.945
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00002104 (SAS)
Exomes Max Group AF
0.00002194 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241508643C>A , CM000663.2:g.241508643C>A | GRCh38 |
| NC_000001.10:g.241671943C>A , CM000663.1:g.241671943C>A | GRCh37 |
| NC_000001.9:g.239738566C>A | NCBI36 |
| NG_012338.1:g.16112G>T , LRG_504:g.16112G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1201G>T | ||
| ENST00000682162.1:c.727G>T | ENSP00000508203.1:n.727G>T | |
| ENST00000682567.1:n.775G>T | ||
| ENST00000683521.1:c.698G>T | ENSP00000506864.1:p.Arg233Leu | |
| ENST00000684161.1:n.1913G>T | ||
| ENST00000684483.1:c.*94G>T | ENSP00000507894.1:n.*94G>T | |
| ENST00000366560.4:c.698G>T MANE Select | ENSP00000355518.4:p.Arg233Leu | |
| ENST00000366560.3:c.698G>T | ENSP00000355518.3:p.Arg233Leu | |
| NM_000143.3:c.698G>T , LRG_504t1:c.698G>T | NP_000134.2:p.Arg233Leu | |
| XM_011544132.1:c.470G>T | XP_011542434.1:p.Arg157Leu | |
| XM_011544132.2:c.470G>T | XP_011542434.1:p.Arg157Leu | |
| NM_000143.4:c.698G>T MANE Select | NP_000134.2:p.Arg233Leu |