Revel Score:
ENST00000536101
0.252
ENST00000335473 (MANE Select)
0.252
ENST00000407587
0.252
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.25843883C>G , CM000684.2:g.25843883C>G | GRCh38 |
| NC_000022.10:g.26239850C>G , CM000684.1:g.26239850C>G | GRCh37 |
| NC_000022.9:g.24569850C>G | NCBI36 |
| NG_046772.1:g.106740C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335473.12:c.3357C>G MANE Select | ENSP00000334563.8:p.His1119Gln | |
| ENST00000335473.11:c.3357C>G | ENSP00000334563.7:p.His1119Gln | |
| ENST00000407587.6:c.3360C>G | ENSP00000386096.2:p.His1120Gln | |
| ENST00000418374.6:n.1928C>G | ||
| ENST00000536101.5:c.3357C>G | ENSP00000441229.1:p.His1119Gln | |
| ENST00000539302.5:c.*815C>G | ENSP00000437587.1:n.*815C>G | |
| NM_032608.5:c.3357C>G | NP_115997.5:p.His1119Gln | |
| XM_005261786.3:c.3360C>G | XP_005261843.1:p.His1120Gln | |
| XM_011530458.1:c.3486C>G | XP_011528760.1:p.His1162Gln | |
| XM_011530459.1:c.3486C>G | XP_011528761.1:p.His1162Gln | |
| XM_011530460.1:c.3486C>G | XP_011528762.1:p.His1162Gln | |
| XM_011530461.1:c.3486C>G | XP_011528763.1:p.His1162Gln | |
| XM_011530462.1:c.3486C>G | XP_011528764.1:p.His1162Gln | |
| XM_011530463.1:c.3486C>G | XP_011528765.1:p.His1162Gln | |
| XM_011530464.1:c.3483C>G | XP_011528766.1:p.His1161Gln | |
| XM_011530465.1:c.3003C>G | XP_011528767.1:p.His1001Gln | |
| XM_011530466.1:c.3486C>G | XP_011528768.1:p.His1162Gln | |
| XM_011530467.1:c.3486C>G | XP_011528769.1:p.His1162Gln | |
| NM_001318245.1:c.3360C>G | NP_001305174.1:p.His1120Gln | |
| NM_032608.6:c.3357C>G | NP_115997.5:p.His1119Gln | |
| XM_011530458.2:c.3486C>G | XP_011528760.1:p.His1162Gln | |
| XM_011530459.2:c.3486C>G | XP_011528761.1:p.His1162Gln | |
| XM_011530460.2:c.3486C>G | XP_011528762.1:p.His1162Gln | |
| XM_011530461.2:c.3486C>G | XP_011528763.1:p.His1162Gln | |
| XM_011530464.2:c.3483C>G | XP_011528766.1:p.His1161Gln | |
| XM_011530465.2:c.3003C>G | XP_011528767.1:p.His1001Gln | |
| XM_011530466.2:c.3486C>G | XP_011528768.1:p.His1162Gln | |
| XM_017029012.1:c.3486C>G | XP_016884501.1:p.His1162Gln | |
| XM_017029013.1:c.3486C>G | XP_016884502.1:p.His1162Gln | |
| XM_017029014.1:c.3486C>G | XP_016884503.1:p.His1162Gln | |
| XM_017029015.1:c.3357C>G | XP_016884504.1:p.His1119Gln | |
| XM_017029016.1:c.822C>G | XP_016884505.1:p.His274Gln | |
| XM_017029017.1:c.819C>G | XP_016884506.1:p.His273Gln | |
| NM_001318245.2:c.3360C>G | NP_001305174.1:p.His1120Gln | |
| NM_032608.7:c.3357C>G MANE Select | NP_115997.5:p.His1119Gln |