Revel Score:
ENST00000458471
0.061
ENST00000262887 (MANE Select)
0.061
ENST00000543982
0.061
ENST00000538738
0.061
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43552260C>A , CM000681.2:g.43552260C>A | GRCh38 |
| NC_000019.9:g.44056412C>A , CM000681.1:g.44056412C>A | GRCh37 |
| NC_000019.8:g.48748252C>A | NCBI36 |
| NG_033799.1:g.28319G>T , LRG_784:g.28319G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262887.10:c.839G>T MANE Select | ENSP00000262887.5:p.Arg280Leu | |
| ENST00000262887.9:c.839G>T | ENSP00000262887.4:p.Arg280Leu | |
| ENST00000543982.5:c.746G>T | ENSP00000443671.1:p.Arg249Leu | |
| ENST00000595789.5:n.960G>T | ||
| ENST00000597811.5:c.449G>T | ||
| ENST00000598165.5:c.860G>T | ENSP00000470045.1:p.Arg287Leu | |
| ENST00000598422.1:n.519G>T | ||
| NM_006297.2:c.839G>T , LRG_784t1:c.839G>T | NP_006288.2:p.Arg280Leu | |
| NM_006297.3:c.839G>T MANE Select | NP_006288.2:p.Arg280Leu |