Revel Score:
ENST00000373960 (MANE Select)
0.923
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219421553G>A , CM000664.2:g.219421553G>A | GRCh38 |
| NC_000002.11:g.220286275G>A , CM000664.1:g.220286275G>A | GRCh37 |
| NC_000002.10:g.219994519G>A | NCBI36 |
| NG_008043.1:g.8177G>A , LRG_380:g.8177G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477226.6:n.711G>A | ||
| ENST00000683013.1:n.625G>A | ||
| ENST00000373960.4:c.1237G>A MANE Select | ENSP00000363071.3:p.Glu413Lys | |
| ENST00000373960.3:c.1237G>A | ENSP00000363071.3:p.Glu413Lys | |
| ENST00000477226.5:n.709G>A | ||
| ENST00000492726.1:n.632G>A | ||
| NM_001927.3:c.1237G>A , LRG_380t1:c.1237G>A | NP_001918.3:p.Glu413Lys | |
| NM_001927.4:c.1237G>A MANE Select | NP_001918.3:p.Glu413Lys | |
| NM_001382708.1:c.1234G>A | NP_001369637.1:p.Glu412Lys | |
| NM_001382709.1:c.805G>A | NP_001369638.1:p.Glu269Lys | |
| NM_001382710.1:c.1168G>A | NP_001369639.1:p.Glu390Lys | |
| NM_001382711.1:c.1216G>A | NP_001369640.1:p.Glu406Lys | |
| NM_001382712.1:c.1237G>A | NP_001369641.1:p.Glu413Lys | |
| NM_001382713.1:c.967G>A | NP_001369642.1:p.Glu323Lys |