Revel Score:
ENST00000264093 (MANE Select)
0.821
ENST00000356837
0.821
ENST00000347161
0.821
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02181992 (NFE)
Genomes Max Group AF
0.02089002 (NFE)
Exomes Max Group AF
0.02182734 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73950650A>G , CM000664.2:g.73950650A>G | GRCh38 |
| NC_000002.11:g.74177777A>G , CM000664.1:g.74177777A>G | GRCh37 |
| NC_000002.10:g.74031285A>G | NCBI36 |
| NG_008044.1:g.28825A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264093.9:c.509A>G MANE Select | ENSP00000264093.4:p.Gln170Arg | |
| ENST00000264093.8:c.509A>G | ENSP00000264093.4:p.Gln170Arg | |
| ENST00000348222.3:c.443+3744A>G | ENSP00000306964.3:n.443+3744A>G | |
| ENST00000418996.5:c.*60+3744A>G | ENSP00000408209.1:n.*60+3744A>G | |
| ENST00000462685.1:n.454A>G | ||
| ENST00000489796.5:n.510A>G | ||
| ENST00000629438.2:c.*126A>G | ENSP00000487122.1:n.*126A>G | |
| NM_080916.2:c.509A>G | NP_550438.1:p.Gln170Arg | |
| NM_080918.2:c.443+3744A>G | NP_550440.1:n.443+3744A>G | |
| XM_005264173.2:c.218A>G | XP_005264230.1:p.Gln73Arg | |
| XM_005264174.1:c.218A>G | XP_005264231.1:p.Gln73Arg | |
| XM_011532647.1:c.491A>G | XP_011530949.1:p.Gln164Arg | |
| XM_011532648.1:c.200A>G | XP_011530950.1:p.Gln67Arg | |
| XR_244926.2:n.590A>G | ||
| NM_001318859.1:c.425+3762A>G | NP_001305788.1:n.425+3762A>G | |
| NM_001318860.1:c.218A>G | NP_001305789.1:p.Gln73Arg | |
| NM_001318861.1:c.218A>G | NP_001305790.1:p.Gln73Arg | |
| NM_001318862.1:c.200A>G | NP_001305791.1:p.Gln67Arg | |
| NM_001318863.1:c.200A>G | NP_001305792.1:p.Gln67Arg | |
| NR_134893.1:n.415+3744A>G | ||
| NR_134894.1:n.481A>G | ||
| NR_134895.1:n.228-7496A>G | ||
| NR_134896.1:n.397+3762A>G | ||
| NR_134897.1:n.525A>G | ||
| NR_134898.1:n.415+3744A>G | ||
| XM_011532647.2:c.491A>G | XP_011530949.1:p.Gln164Arg | |
| XM_024452739.1:c.218A>G | XP_024308507.1:p.Gln73Arg | |
| XR_001738656.1:n.527+3744A>G | ||
| XR_244926.3:n.592A>G | ||
| NM_080916.3:c.509A>G MANE Select | NP_550438.1:p.Gln170Arg | |
| NM_001318859.2:c.425+3762A>G | NP_001305788.1:n.425+3762A>G | |
| NM_001318860.2:c.218A>G | NP_001305789.1:p.Gln73Arg | |
| NM_001318861.2:c.218A>G | NP_001305790.1:p.Gln73Arg | |
| NM_001318862.2:c.200A>G | NP_001305791.1:p.Gln67Arg | |
| NM_001318863.2:c.200A>G | NP_001305792.1:p.Gln67Arg | |
| NM_080918.3:c.443+3744A>G | NP_550440.1:n.443+3744A>G | |
| NR_134893.2:n.361+3744A>G | ||
| NR_134894.2:n.427A>G | ||
| NR_134895.2:n.174-7496A>G | ||
| NR_134896.2:n.343+3762A>G | ||
| NR_134897.2:n.471A>G | ||
| NR_134898.2:n.361+3744A>G |