Revel Score:
ENST00000366560 (MANE Select)
0.945
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241508643C>G , CM000663.2:g.241508643C>G | GRCh38 |
| NC_000001.10:g.241671943C>G , CM000663.1:g.241671943C>G | GRCh37 |
| NC_000001.9:g.239738566C>G | NCBI36 |
| NG_012338.1:g.16112G>C , LRG_504:g.16112G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1201G>C | ||
| ENST00000682162.1:c.727G>C | ENSP00000508203.1:n.727G>C | |
| ENST00000682567.1:n.775G>C | ||
| ENST00000683521.1:c.698G>C | ENSP00000506864.1:p.Arg233Pro | |
| ENST00000684161.1:n.1913G>C | ||
| ENST00000684483.1:c.*94G>C | ENSP00000507894.1:n.*94G>C | |
| ENST00000366560.4:c.698G>C MANE Select | ENSP00000355518.4:p.Arg233Pro | |
| ENST00000366560.3:c.698G>C | ENSP00000355518.3:p.Arg233Pro | |
| NM_000143.3:c.698G>C , LRG_504t1:c.698G>C | NP_000134.2:p.Arg233Pro | |
| XM_011544132.1:c.470G>C | XP_011542434.1:p.Arg157Pro | |
| XM_011544132.2:c.470G>C | XP_011542434.1:p.Arg157Pro | |
| NM_000143.4:c.698G>C MANE Select | NP_000134.2:p.Arg233Pro |