Revel Score:
ENST00000345060 (MANE Select)
0.379
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965604C>A , CM000670.2:g.37965604C>A | GRCh38 |
| NC_000008.10:g.37823122C>A , CM000670.1:g.37823122C>A | GRCh37 |
| NC_000008.9:g.37942279C>A | NCBI36 |
| NG_011936.1:g.6063G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.866G>T MANE Select | ENSP00000343782.3:p.Arg289Leu | |
| ENST00000520341.2:n.994G>T | ||
| ENST00000647937.1:c.350G>T | ENSP00000497740.1:p.Arg117Leu | |
| ENST00000345060.4:c.866G>T | ENSP00000343782.3:p.Arg289Leu | |
| ENST00000520341.1:n.141G>T | ||
| ENST00000614635.1:c.866G>T | ENSP00000480325.1:p.Arg289Leu | |
| NM_000025.2:c.866G>T | NP_000016.1:p.Arg289Leu | |
| NM_000025.3:c.866G>T MANE Select | NP_000016.1:p.Arg289Leu |