Revel Score:
ENST00000263102 (MANE Select)
0.200
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.59804429T>A , CM000672.2:g.59804429T>A | GRCh38 |
| NC_000010.10:g.61564187T>A , CM000672.1:g.61564187T>A | GRCh37 |
| NC_000010.9:g.61234193T>A | NCBI36 |
| NG_027819.1:g.107228A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263102.7:c.1096A>T MANE Select | ENSP00000263102.6:p.Ile366Leu | |
| ENST00000263102.6:c.1096A>T | ENSP00000263102.6:p.Ile366Leu | |
| ENST00000491922.1:n.1148A>T | ||
| NM_005436.4:c.1096A>T | NP_005427.2:p.Ile366Leu | |
| NM_005436.5:c.1096A>T MANE Select | NP_005427.2:p.Ile366Leu |