Revel Score:
ENST00000375499 (MANE Select)
0.927
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17044824C>A , CM000663.2:g.17044824C>A | GRCh38 |
| NC_000001.10:g.17371319C>A , CM000663.1:g.17371319C>A | GRCh37 |
| NC_000001.9:g.17243906C>A | NCBI36 |
| NG_012340.1:g.14347G>T , LRG_316:g.14347G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.-35G>T | ENSP00000481376.2:n.-35G>T | |
| ENST00000491274.6:c.95G>T | ENSP00000480482.2:p.Arg32Leu | |
| ENST00000375499.8:c.137G>T MANE Select | ENSP00000364649.3:p.Arg46Leu | |
| ENST00000375499.7:c.137G>T | ENSP00000364649.3:p.Arg46Leu | |
| ENST00000463045.2:c.-35G>T | ENSP00000481376.1:n.-35G>T | |
| ENST00000466613.2:n.149G>T | ||
| ENST00000475506.1:n.54G>T | ||
| ENST00000485515.5:n.125G>T | ||
| ENST00000491274.5:c.95G>T | ENSP00000480482.1:p.Arg32Leu | |
| NM_003000.2:c.137G>T , LRG_316t1:c.137G>T | NP_002991.2:p.Arg46Leu | |
| NM_003000.3:c.137G>T MANE Select | NP_002991.2:p.Arg46Leu |