Revel Score:
ENST00000525748 (MANE Select)
0.045
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001747 (AFR)
Exomes Max Group AF
0.00002377 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.20601477C>G , CM000673.2:g.20601477C>G | GRCh38 |
| NC_000011.9:g.20623023C>G , CM000673.1:g.20623023C>G | GRCh37 |
| NC_000011.8:g.20579599C>G | NCBI36 |
| NG_013086.1:g.7078C>G | |
| NG_013086.2:g.7078C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525748.6:c.352C>G MANE Select | ENSP00000434364.2:p.Leu118Val | |
| ENST00000298923.11:c.352C>G | ENSP00000298923.7:p.Leu118Val | |
| ENST00000525748.5:c.352C>G | ENSP00000434364.1:p.Leu118Val | |
| NM_004211.3:c.352C>G | NP_004202.2:p.Leu118Val | |
| XM_005253225.1:c.-212C>G | XP_005253282.1:n.-212C>G | |
| XM_011520473.1:c.352C>G | XP_011518775.1:p.Leu118Val | |
| NM_001318369.1:c.-212C>G | NP_001305298.1:n.-212C>G | |
| NM_004211.4:c.352C>G | NP_004202.3:p.Leu118Val | |
| XM_017018545.2:c.-57+1802C>G | XP_016874034.1:n.-57+1802C>G | |
| NM_001318369.2:c.-212C>G | NP_001305298.1:n.-212C>G | |
| NM_004211.5:c.352C>G MANE Select | NP_004202.4:p.Leu118Val |