Revel Score:
ENST00000556206
0.092
ENST00000261978 (MANE Select)
0.159
ENST00000556690
0.159
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74508727C>G , CM000676.2:g.74508727C>G | GRCh38 |
| NC_000014.8:g.74975430C>G , CM000676.1:g.74975430C>G | GRCh37 |
| NC_000014.7:g.74045183C>G | NCBI36 |
| NG_021486.1:g.108605G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261978.9:c.3529G>C MANE Select | ENSP00000261978.4:p.Val1177Leu | |
| ENST00000261978.8:c.3529G>C | ENSP00000261978.4:p.Val1177Leu | |
| ENST00000553939.5:c.3529G>C | ENSP00000452110.1:p.Val1177Leu | |
| ENST00000556206.1:c.326G>C | ||
| ENST00000556690.5:c.3529G>C | ENSP00000451477.1:p.Val1177Leu | |
| NM_000428.2:c.3529G>C | NP_000419.1:p.Val1177Leu | |
| XM_011536765.1:c.3148G>C | XP_011535067.1:p.Val1050Leu | |
| XM_011536766.1:c.3070G>C | XP_011535068.1:p.Val1024Leu | |
| XM_011536767.1:c.3046G>C | XP_011535069.1:p.Val1016Leu | |
| XM_011536765.2:c.3148G>C | XP_011535067.1:p.Val1050Leu | |
| NM_000428.3:c.3529G>C MANE Select | NP_000419.1:p.Val1177Leu |