Revel Score:
ENST00000373960 (MANE Select)
0.976
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219421425T>C , CM000664.2:g.219421425T>C | GRCh38 |
| NC_000002.11:g.220286147T>C , CM000664.1:g.220286147T>C | GRCh37 |
| NC_000002.10:g.219994391T>C | NCBI36 |
| NG_008043.1:g.8049T>C , LRG_380:g.8049T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477226.6:n.583T>C | ||
| ENST00000683013.1:n.497T>C | ||
| ENST00000373960.4:c.1109T>C MANE Select | ENSP00000363071.3:p.Leu370Pro | |
| ENST00000373960.3:c.1109T>C | ENSP00000363071.3:p.Leu370Pro | |
| ENST00000477226.5:n.581T>C | ||
| ENST00000492726.1:n.504T>C | ||
| NM_001927.3:c.1109T>C , LRG_380t1:c.1109T>C | NP_001918.3:p.Leu370Pro | |
| NM_001927.4:c.1109T>C MANE Select | NP_001918.3:p.Leu370Pro | |
| NM_001382708.1:c.1106T>C | NP_001369637.1:p.Leu369Pro | |
| NM_001382709.1:c.736-59T>C | NP_001369638.1:n.736-59T>C | |
| NM_001382710.1:c.1040T>C | NP_001369639.1:p.Leu347Pro | |
| NM_001382711.1:c.1088T>C | NP_001369640.1:p.Leu363Pro | |
| NM_001382712.1:c.1109T>C | NP_001369641.1:p.Leu370Pro | |
| NM_001382713.1:c.839T>C | NP_001369642.1:p.Leu280Pro |