Revel Score:
ENST00000373960 (MANE Select)
0.969
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219420943T>G , CM000664.2:g.219420943T>G | GRCh38 |
| NC_000002.11:g.220285665T>G , CM000664.1:g.220285665T>G | GRCh37 |
| NC_000002.10:g.219993909T>G | NCBI36 |
| NG_008043.1:g.7567T>G , LRG_380:g.7567T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477226.6:n.487T>G | ||
| ENST00000683013.1:n.401T>G | ||
| ENST00000373960.4:c.1013T>G MANE Select | ENSP00000363071.3:p.Leu338Arg | |
| ENST00000373960.3:c.1013T>G | ENSP00000363071.3:p.Leu338Arg | |
| ENST00000477226.5:n.485T>G | ||
| ENST00000492726.1:n.408T>G | ||
| NM_001927.3:c.1013T>G , LRG_380t1:c.1013T>G | NP_001918.3:p.Leu338Arg | |
| NM_001927.4:c.1013T>G MANE Select | NP_001918.3:p.Leu338Arg | |
| NM_001382708.1:c.1010T>G | NP_001369637.1:p.Leu337Arg | |
| NM_001382709.1:c.736-541T>G | NP_001369638.1:n.736-541T>G | |
| NM_001382710.1:c.1013T>G | NP_001369639.1:p.Leu338Arg | |
| NM_001382711.1:c.1013T>G | NP_001369640.1:p.Leu338Arg | |
| NM_001382712.1:c.1013T>G | NP_001369641.1:p.Leu338Arg | |
| NM_001382713.1:c.743T>G | NP_001369642.1:p.Leu248Arg |