Revel Score:
ENST00000257901 (MANE Select)
0.255
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52367173C>A , CM000674.2:g.52367173C>A | GRCh38 |
| NC_000012.11:g.52760957C>A , CM000674.1:g.52760957C>A | GRCh37 |
| NC_000012.10:g.51047224C>A | NCBI36 |
| NG_008353.1:g.5353G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257901.7:c.233G>T MANE Select | ENSP00000257901.3:p.Arg78Leu | |
| NM_002283.3:c.233G>T | NP_002274.1:p.Arg78Leu | |
| NM_002283.4:c.233G>T MANE Select | NP_002274.1:p.Arg78Leu |