Revel Score:
ENST00000264093 (MANE Select)
0.800
ENST00000348222
0.800
ENST00000356837
0.800
ENST00000347161
0.800
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001533 (NFE)
Genomes Max Group AF
0.00002846 (NFE)
Exomes Max Group AF
0.00001213 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73927047A>G , CM000664.2:g.73927047A>G | GRCh38 |
| NC_000002.11:g.74154174A>G , CM000664.1:g.74154174A>G | GRCh37 |
| NC_000002.10:g.74007682A>G | NCBI36 |
| NG_008044.1:g.5222A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264093.9:c.137A>G MANE Select | ENSP00000264093.4:p.Asn46Ser | |
| ENST00000264093.8:c.137A>G | ENSP00000264093.4:p.Asn46Ser | |
| ENST00000348222.3:c.137A>G | ENSP00000306964.3:p.Asn46Ser | |
| ENST00000418996.5:c.137A>G | ENSP00000408209.1:p.Asn46Ser | |
| ENST00000462551.1:n.155A>G | ||
| ENST00000462685.1:n.151A>G | ||
| ENST00000489796.5:n.154A>G | ||
| ENST00000493055.1:n.140A>G | ||
| ENST00000629438.2:c.137A>G | ENSP00000487122.1:p.Asn46Ser | |
| NM_080916.2:c.137A>G | NP_550438.1:p.Asn46Ser | |
| NM_080918.2:c.137A>G | NP_550440.1:p.Asn46Ser | |
| XM_005264173.2:c.-42A>G | XP_005264230.1:n.-42A>G | |
| XM_005264174.1:c.-128A>G | XP_005264231.1:n.-128A>G | |
| XM_011532647.1:c.137A>G | XP_011530949.1:p.Asn46Ser | |
| XM_011532648.1:c.-128A>G | XP_011530950.1:n.-128A>G | |
| XR_244926.2:n.218A>G | ||
| NM_001318859.1:c.137A>G | NP_001305788.1:p.Asn46Ser | |
| NM_001318860.1:c.-42A>G | NP_001305789.1:n.-42A>G | |
| NM_001318861.1:c.-128A>G | NP_001305790.1:n.-128A>G | |
| NM_001318862.1:c.-128A>G | NP_001305791.1:n.-128A>G | |
| NM_001318863.1:c.-42A>G | NP_001305792.1:n.-42A>G | |
| NR_134893.1:n.222A>G | ||
| NR_134894.1:n.222A>G | ||
| NR_134895.1:n.222A>G | ||
| NR_134896.1:n.222A>G | ||
| NR_134897.1:n.222A>G | ||
| NR_134898.1:n.222A>G | ||
| XM_011532647.2:c.137A>G | XP_011530949.1:p.Asn46Ser | |
| XM_024452739.1:c.-241A>G | XP_024308507.1:n.-241A>G | |
| XR_001738656.1:n.221A>G | ||
| XR_244926.3:n.220A>G | ||
| NM_080916.3:c.137A>G MANE Select | NP_550438.1:p.Asn46Ser | |
| NM_001318859.2:c.137A>G | NP_001305788.1:p.Asn46Ser | |
| NM_001318860.2:c.-42A>G | NP_001305789.1:n.-42A>G | |
| NM_001318861.2:c.-128A>G | NP_001305790.1:n.-128A>G | |
| NM_001318862.2:c.-128A>G | NP_001305791.1:n.-128A>G | |
| NM_001318863.2:c.-42A>G | NP_001305792.1:n.-42A>G | |
| NM_080918.3:c.137A>G | NP_550440.1:p.Asn46Ser | |
| NR_134893.2:n.168A>G | ||
| NR_134894.2:n.168A>G | ||
| NR_134895.2:n.168A>G | ||
| NR_134896.2:n.168A>G | ||
| NR_134897.2:n.168A>G | ||
| NR_134898.2:n.168A>G |