Revel Score:
ENST00000252242 (MANE Select)
0.927
ENST00000456000
0.927
ENST00000549420
0.927
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519160C>A , CM000674.2:g.52519160C>A | GRCh38 |
| NC_000012.11:g.52912944C>A , CM000674.1:g.52912944C>A | GRCh37 |
| NC_000012.10:g.51199211C>A | NCBI36 |
| NG_008297.1:g.6300G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.556G>T MANE Select | ENSP00000252242.4:p.Val186Leu | |
| ENST00000252242.8:c.556G>T | ENSP00000252242.4:p.Val186Leu | |
| ENST00000549420.1:c.226G>T | ENSP00000447209.1:p.Val76Leu | |
| ENST00000551013.1:n.84G>T | ||
| ENST00000552629.5:n.654G>T | ||
| NM_000424.3:c.556G>T | NP_000415.2:p.Val186Leu | |
| NM_000424.4:c.556G>T MANE Select | NP_000415.2:p.Val186Leu |