Revel Score:
ENST00000342754
0.064
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002074 (NFE)
Exomes Max Group AF
0.00002117 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77942202A>G , CM000663.2:g.77942202A>G | GRCh38 |
| NC_000001.10:g.78407887A>G , CM000663.1:g.78407887A>G | GRCh37 |
| NC_000001.9:g.78180475A>G | NCBI36 |
| NG_016625.1:g.58688A>G , LRG_442:g.58688A>G | |
| NG_033243.2:g.41892T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334785.12:c.1653A>G MANE Select | ENSP00000333938.7:p.Leu551= | |
| ENST00000330010.12:c.1461A>G | ENSP00000327363.8:p.Leu487= | |
| ENST00000334785.11:c.1653A>G | ENSP00000333938.7:p.Leu551= | |
| ENST00000342754.5:c.1352A>G | ||
| ENST00000470735.1:n.492A>G | ||
| ENST00000480732.2:n.1227A>G | ||
| NM_001172309.1:c.1461A>G | NP_001165780.1:p.Leu487= | |
| NM_144573.3:c.1653A>G , LRG_442t1:c.1653A>G | NP_653174.3:p.Leu551= | |
| XM_005271322.2:c.1653A>G | XP_005271379.1:p.Leu551= | |
| XM_005271323.2:c.1611A>G | XP_005271380.1:p.Leu537= | |
| XM_005271324.3:c.1461A>G | XP_005271381.1:p.Leu487= | |
| XM_005271325.2:c.1431A>G | XP_005271382.1:p.Leu477= | |
| XM_005271326.2:c.1419A>G | XP_005271383.1:p.Leu473= | |
| XM_005271327.2:c.1236A>G | XP_005271384.1:p.Leu412= | |
| XM_005271322.4:c.1653A>G | XP_005271379.1:p.Leu551= | |
| XM_005271323.4:c.1611A>G | XP_005271380.1:p.Leu537= | |
| XM_005271324.5:c.1461A>G | XP_005271381.1:p.Leu487= | |
| XM_005271325.4:c.1431A>G | XP_005271382.1:p.Leu477= | |
| XM_005271326.4:c.1419A>G | XP_005271383.1:p.Leu473= | |
| XM_005271327.4:c.1236A>G | XP_005271384.1:p.Leu412= | |
| NM_001172309.2:c.1461A>G | NP_001165780.1:p.Leu487= | |
| NM_144573.4:c.1653A>G MANE Select | NP_653174.3:p.Leu551= |