Revel Score:
ENST00000446804
0.097
ENST00000311907 (MANE Select)
0.242
ENST00000530231
0.242
ENST00000442468
0.242
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46725909G>C , CM000673.2:g.46725909G>C | GRCh38 |
| NC_000011.9:g.46747459G>C , CM000673.1:g.46747459G>C | GRCh37 |
| NC_000011.8:g.46704035G>C | NCBI36 |
| NG_008953.1:g.11717G>C , LRG_551:g.11717G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311907.10:c.610G>C MANE Select | ENSP00000308541.5:p.Val204Leu | |
| ENST00000311907.9:c.610G>C | ENSP00000308541.5:p.Val204Leu | |
| ENST00000442468.1:c.580G>C | ENSP00000387413.1:p.Val194Leu | |
| ENST00000490274.1:n.390G>C | ||
| ENST00000530231.5:c.610G>C | ENSP00000433907.1:p.Val204Leu | |
| NM_000506.3:c.610G>C | NP_000497.1:p.Val204Leu | |
| NM_000506.4:c.610G>C , LRG_551t1:c.610G>C | NP_000497.1:p.Val204Leu | |
| NM_001311257.1:c.562G>C | NP_001298186.1:p.Val188Leu | |
| XR_428840.2:n.654G>C | ||
| XR_428840.4:n.645G>C | ||
| NM_000506.5:c.610G>C MANE Select | NP_000497.1:p.Val204Leu | |
| NM_001311257.2:c.562G>C | NP_001298186.1:p.Val188Leu |