Revel Score:
ENST00000418145
0.054
gnomAD v4:
Joint Max Group AF
0.00001521 (EAS)
Exomes Max Group AF
0.00001924 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236795348C>G , CM000663.2:g.236795348C>G | GRCh38 |
| NC_000001.10:g.236958648C>G , CM000663.1:g.236958648C>G | GRCh37 |
| NC_000001.9:g.235025271C>G | NCBI36 |
| NG_008959.1:g.5068C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366577.10:c.-356C>G MANE Select | ENSP00000355536.5:n.-356C>G | |
| ENST00000652435.1:c.-489C>G | ENSP00000505932.1:n.-489C>G | |
| ENST00000674797.2:c.-489C>G | ENSP00000502299.2:n.-489C>G | |
| ENST00000680454.1:n.89C>G | ||
| ENST00000366577.9:c.-356C>G | ENSP00000355536.5:n.-356C>G | |
| ENST00000535889.5:c.-356C>G | ENSP00000441845.1:n.-356C>G | |
| NM_000254.2:c.-356C>G | NP_000245.2:n.-356C>G | |
| NM_001291939.1:c.-356C>G | NP_001278868.1:n.-356C>G | |
| NM_001291940.1:c.-1464C>G | NP_001278869.1:n.-1464C>G | |
| XM_005273141.3:c.-356C>G | XP_005273198.1:n.-356C>G | |
| XM_006711769.2:c.-356C>G | XP_006711832.1:n.-356C>G | |
| XM_011544193.1:c.-356C>G | XP_011542495.1:n.-356C>G | |
| XM_011544194.1:c.28C>G | XP_011542496.1:p.His10Asp | |
| XM_005273141.5:c.-356C>G | XP_005273198.1:n.-356C>G | |
| XM_011544194.3:c.28C>G | XP_011542496.1:p.His10Asp | |
| XM_017001329.2:c.28C>G | XP_016856818.1:p.His10Asp | |
| XM_017001330.2:c.28C>G | XP_016856819.1:p.His10Asp | |
| NM_001291940.2:c.-1464C>G | NP_001278869.1:n.-1464C>G | |
| NM_000254.3:c.-356C>G MANE Select | NP_000245.2:n.-356C>G |