Revel Score:
ENST00000368109
0.092
ENST00000368108
0.092
ENST00000368107 (MANE Select)
0.092
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159781266C>G , CM000663.2:g.159781266C>G | GRCh38 |
| NC_000001.10:g.159751056C>G , CM000663.1:g.159751056C>G | GRCh37 |
| NC_000001.9:g.158017680C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368107.2:c.166C>G MANE Select | ENSP00000357087.1:p.Leu56Val | |
| ENST00000368107.1:c.166C>G | ENSP00000357087.1:p.Leu56Val | |
| ENST00000368108.7:c.166C>G | ENSP00000357088.3:p.Leu56Val | |
| ENST00000368109.5:c.166C>G | ENSP00000357089.1:p.Leu56Val | |
| NM_017823.3:c.166C>G | NP_060293.2:p.Leu56Val | |
| XM_005245289.1:c.166C>G | XP_005245346.1:p.Leu56Val | |
| NM_001319658.1:c.166C>G | NP_001306587.1:p.Leu56Val | |
| NM_001319659.1:c.166C>G | NP_001306588.1:p.Leu56Val | |
| NM_017823.4:c.166C>G | NP_060293.2:p.Leu56Val | |
| NM_001319658.2:c.166C>G MANE Select | NP_001306587.1:p.Leu56Val | |
| NM_001319659.2:c.166C>G | NP_001306588.1:p.Leu56Val | |
| NM_017823.5:c.166C>G | NP_060293.2:p.Leu56Val |