Revel Score:
ENST00000426263 (MANE Select)
0.777
ENST00000372501
0.777
ENST00000439722
0.777
ENST00000372500
0.777
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42930724C>A , CM000663.2:g.42930724C>A | GRCh38 |
| NC_000001.10:g.43396395C>A , CM000663.1:g.43396395C>A | GRCh37 |
| NC_000001.9:g.43168982C>A | NCBI36 |
| NG_008232.1:g.33453G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.418G>T MANE Select | ENSP00000416293.2:p.Val140Leu | |
| ENST00000674765.1:c.418G>T | ENSP00000501811.1:p.Val140Leu | |
| ENST00000675112.1:n.441G>T | ||
| ENST00000676254.1:n.867G>T | ||
| ENST00000372500.4:c.322G>T | ENSP00000361578.4:p.Val108Leu | |
| ENST00000426263.7:c.418G>T | ENSP00000416293.2:p.Val140Leu | |
| ENST00000439722.2:c.297G>T | ENSP00000395521.2:n.297G>T | |
| ENST00000475162.3:c.317G>T | ||
| ENST00000625233.2:n.626G>T | ||
| ENST00000630287.2:c.418G>T | ENSP00000486694.1:p.Val140Leu | |
| NM_006516.2:c.418G>T | NP_006507.2:p.Val140Leu | |
| NM_006516.3:c.418G>T | NP_006507.2:p.Val140Leu | |
| NM_006516.4:c.418G>T MANE Select | NP_006507.2:p.Val140Leu |