Revel Score:
ENST00000556206
0.012
ENST00000261978 (MANE Select)
0.159
ENST00000556690
0.159
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74508727C>A , CM000676.2:g.74508727C>A | GRCh38 |
| NC_000014.8:g.74975430C>A , CM000676.1:g.74975430C>A | GRCh37 |
| NC_000014.7:g.74045183C>A | NCBI36 |
| NG_021486.1:g.108605G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261978.9:c.3529G>T MANE Select | ENSP00000261978.4:p.Val1177Leu | |
| ENST00000261978.8:c.3529G>T | ENSP00000261978.4:p.Val1177Leu | |
| ENST00000553939.5:c.3529G>T | ENSP00000452110.1:p.Val1177Leu | |
| ENST00000556206.1:c.326G>T | ||
| ENST00000556690.5:c.3529G>T | ENSP00000451477.1:p.Val1177Leu | |
| NM_000428.2:c.3529G>T | NP_000419.1:p.Val1177Leu | |
| XM_011536765.1:c.3148G>T | XP_011535067.1:p.Val1050Leu | |
| XM_011536766.1:c.3070G>T | XP_011535068.1:p.Val1024Leu | |
| XM_011536767.1:c.3046G>T | XP_011535069.1:p.Val1016Leu | |
| XM_011536765.2:c.3148G>T | XP_011535067.1:p.Val1050Leu | |
| NM_000428.3:c.3529G>T MANE Select | NP_000419.1:p.Val1177Leu |