Revel Score:
ENST00000446804
0.084
ENST00000311907 (MANE Select)
0.242
ENST00000530231
0.242
ENST00000442468
0.242
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46725909G>T , CM000673.2:g.46725909G>T | GRCh38 |
| NC_000011.9:g.46747459G>T , CM000673.1:g.46747459G>T | GRCh37 |
| NC_000011.8:g.46704035G>T | NCBI36 |
| NG_008953.1:g.11717G>T , LRG_551:g.11717G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311907.10:c.610G>T MANE Select | ENSP00000308541.5:p.Val204Leu | |
| ENST00000311907.9:c.610G>T | ENSP00000308541.5:p.Val204Leu | |
| ENST00000442468.1:c.580G>T | ENSP00000387413.1:p.Val194Leu | |
| ENST00000490274.1:n.390G>T | ||
| ENST00000530231.5:c.610G>T | ENSP00000433907.1:p.Val204Leu | |
| NM_000506.3:c.610G>T | NP_000497.1:p.Val204Leu | |
| NM_000506.4:c.610G>T , LRG_551t1:c.610G>T | NP_000497.1:p.Val204Leu | |
| NM_001311257.1:c.562G>T | NP_001298186.1:p.Val188Leu | |
| XR_428840.2:n.654G>T | ||
| XR_428840.4:n.645G>T | ||
| NM_000506.5:c.610G>T MANE Select | NP_000497.1:p.Val204Leu | |
| NM_001311257.2:c.562G>T | NP_001298186.1:p.Val188Leu |