Revel Score:
ENST00000155840 (MANE Select)
0.849
ENST00000335475
0.849
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2583468G>T , CM000673.2:g.2583468G>T | GRCh38 |
| NC_000011.9:g.2604698G>T , CM000673.1:g.2604698G>T | GRCh37 |
| NC_000011.8:g.2561274G>T | NCBI36 |
| NG_008935.1:g.143478G>T , LRG_287:g.143478G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.694G>T | ENSP00000434560.2:p.Val232Leu | |
| ENST00000646564.2:c.511G>T | ENSP00000495806.2:p.Val171Leu | |
| ENST00000155840.12:c.955G>T MANE Select | ENSP00000155840.2:p.Val319Leu | |
| ENST00000335475.6:c.574G>T | ENSP00000334497.5:p.Val192Leu | |
| ENST00000646564.1:c.157G>T | ENSP00000495806.1:p.Val53Leu | |
| ENST00000155840.9:c.955G>T | ENSP00000155840.2:p.Val319Leu | |
| ENST00000335475.5:c.574G>T | ENSP00000334497.5:p.Val192Leu | |
| NM_000218.2:c.955G>T , LRG_287t1:c.955G>T | NP_000209.2:p.Val319Leu | |
| NM_181798.1:c.574G>T , LRG_287t2:c.574G>T | NP_861463.1:p.Val192Leu | |
| NM_000218.3:c.955G>T MANE Select | NP_000209.2:p.Val319Leu |