Revel Score:
ENST00000397795
0.085
ENST00000542188
0.085
ENST00000256552 (MANE Select)
0.085
ENST00000397793
0.085
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.31042159C>A , CM000677.2:g.31042159C>A | GRCh38 |
| NC_000015.9:g.31334362C>A , CM000677.1:g.31334362C>A | GRCh37 |
| NC_000015.8:g.29121654C>A | NCBI36 |
| NG_016453.1:g.64563G>T | |
| NG_016453.2:g.124115G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711434.1:c.1813G>T | ENSP00000518752.1:p.Val605Leu | |
| ENST00000397795.7:c.1813G>T | ENSP00000380897.2:p.Val605Leu | |
| ENST00000558445.6:c.1930G>T | ENSP00000452946.2:p.Val644Leu | |
| ENST00000559177.6:c.545-13683G>T | ENSP00000453477.2:n.545-13683G>T | |
| ENST00000256552.11:c.1879G>T MANE Select | ENSP00000256552.7:p.Val627Leu | |
| ENST00000256552.10:c.1879G>T | ENSP00000256552.6:p.Val627Leu | |
| ENST00000397795.6:c.1813G>T | ENSP00000380897.2:p.Val605Leu | |
| ENST00000542188.5:c.1930G>T | ENSP00000437849.1:p.Val644Leu | |
| ENST00000558445.5:c.1813G>T | ENSP00000452946.1:p.Val605Leu | |
| ENST00000558768.5:c.1582G>T | ENSP00000453119.2:p.Val528Leu | |
| ENST00000559177.5:c.428-13683G>T | ENSP00000453477.1:n.428-13683G>T | |
| ENST00000560801.5:c.1630G>T | ENSP00000453644.2:n.1630G>T | |
| NM_001252020.1:c.1930G>T | NP_001238949.1:p.Val644Leu | |
| NM_001252024.1:c.1879G>T | NP_001238953.1:p.Val627Leu | |
| NM_002420.5:c.1813G>T | NP_002411.3:p.Val605Leu | |
| NM_001252024.2:c.1879G>T MANE Select | NP_001238953.1:p.Val627Leu | |
| NM_002420.6:c.1813G>T | NP_002411.3:p.Val605Leu | |
| NM_001252020.2:c.1930G>T | NP_001238949.1:p.Val644Leu |