Revel Score:
ENST00000418145
0.015
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010574 (NFE)
Genomes Max Group AF
0.00005841 (NFE)
Exomes Max Group AF
0.00010583 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236795376T>G , CM000663.2:g.236795376T>G | GRCh38 |
| NC_000001.10:g.236958676T>G , CM000663.1:g.236958676T>G | GRCh37 |
| NC_000001.9:g.235025299T>G | NCBI36 |
| NG_008959.1:g.5096T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366577.10:c.-328T>G MANE Select | ENSP00000355536.5:n.-328T>G | |
| ENST00000652435.1:c.-461T>G | ENSP00000505932.1:n.-461T>G | |
| ENST00000674797.2:c.-461T>G | ENSP00000502299.2:n.-461T>G | |
| ENST00000680454.1:n.117T>G | ||
| ENST00000366577.9:c.-328T>G | ENSP00000355536.5:n.-328T>G | |
| ENST00000535889.5:c.-328T>G | ENSP00000441845.1:n.-328T>G | |
| NM_000254.2:c.-328T>G | NP_000245.2:n.-328T>G | |
| NM_001291939.1:c.-328T>G | NP_001278868.1:n.-328T>G | |
| NM_001291940.1:c.-1436T>G | NP_001278869.1:n.-1436T>G | |
| XM_005273141.3:c.-328T>G | XP_005273198.1:n.-328T>G | |
| XM_006711769.2:c.-328T>G | XP_006711832.1:n.-328T>G | |
| XM_011544193.1:c.-328T>G | XP_011542495.1:n.-328T>G | |
| XM_011544194.1:c.56T>G | XP_011542496.1:p.Leu19Arg | |
| XM_005273141.5:c.-328T>G | XP_005273198.1:n.-328T>G | |
| XM_011544194.3:c.56T>G | XP_011542496.1:p.Leu19Arg | |
| XM_017001329.2:c.56T>G | XP_016856818.1:p.Leu19Arg | |
| XM_017001330.2:c.56T>G | XP_016856819.1:p.Leu19Arg | |
| NM_001291940.2:c.-1436T>G | NP_001278869.1:n.-1436T>G | |
| NM_000254.3:c.-328T>G MANE Select | NP_000245.2:n.-328T>G |