Revel Score:
ENST00000511076
0.021
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00011211 (AFR)
Genomes Max Group AF
0.00013048 (AFR)
Exomes Max Group AF
0.00003984 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177093265C>G , CM000667.2:g.177093265C>G | GRCh38 |
| NC_000005.9:g.176520266C>G , CM000667.1:g.176520266C>G | GRCh37 |
| NC_000005.8:g.176452872C>G | NCBI36 |
| NG_012067.1:g.11346C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292408.9:c.1185C>G MANE Select | ENSP00000292408.4:p.Leu395= | |
| ENST00000292408.8:c.1185C>G | ENSP00000292408.4:p.Leu395= | |
| ENST00000393637.5:c.1058-67C>G | ENSP00000377254.1:n.1058-67C>G | |
| ENST00000393648.6:c.1097+88C>G | ENSP00000377259.2:n.1097+88C>G | |
| ENST00000502906.5:c.1185C>G | ENSP00000424960.1:p.Leu395= | |
| ENST00000508139.1:n.489C>G | ||
| ENST00000511076.1:c.91C>G | ||
| NM_001291980.1:c.1097+88C>G | NP_001278909.1:n.1097+88C>G | |
| NM_002011.4:c.1185C>G | NP_002002.3:p.Leu395= | |
| NM_022963.3:c.1058-67C>G | NP_075252.2:n.1058-67C>G | |
| NM_213647.2:c.1185C>G | NP_998812.1:p.Leu395= | |
| XM_005265838.2:c.1185C>G | XP_005265895.1:p.Leu395= | |
| XM_011534464.1:c.1278C>G | XP_011532766.1:p.Leu426= | |
| XM_011534465.1:c.867C>G | XP_011532767.1:p.Leu289= | |
| XR_941090.1:n.1230C>G | ||
| NM_001354984.1:c.1185C>G | NP_001341913.1:p.Leu395= | |
| NM_213647.3:c.1185C>G MANE Select | NP_998812.1:p.Leu395= | |
| NM_001291980.2:c.1097+88C>G | NP_001278909.1:n.1097+88C>G | |
| NM_001354984.2:c.1185C>G | NP_001341913.1:p.Leu395= | |
| NM_002011.5:c.1185C>G | NP_002002.3:p.Leu395= |