Revel Score:
ENST00000263817
0.731
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000954 (NFE)
Genomes Max Group AF
0.00001973 (NFE)
Exomes Max Group AF
0.00000731 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.168972017T>C , CM000664.2:g.168972017T>C | GRCh38 |
| NC_000002.11:g.169828527T>C , CM000664.1:g.169828527T>C | GRCh37 |
| NC_000002.10:g.169536773T>C | NCBI36 |
| NG_007374.1:g.64307A>G | |
| NG_007374.2:g.64380A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650372.1:c.1468A>G MANE Select | ENSP00000497931.1:p.Asn490Asp | |
| ENST00000263817.6:c.1468A>G | ENSP00000263817.6:p.Asn490Asp | |
| ENST00000439188.1:c.16A>G | ENSP00000416058.1:p.Asn6Asp | |
| NM_003742.2:c.1468A>G | NP_003733.2:p.Asn490Asp | |
| XM_006712817.2:c.1510A>G | XP_006712880.1:p.Asn504Asp | |
| XM_011512077.1:c.1570A>G | XP_011510379.1:p.Asn524Asp | |
| XM_011512078.1:c.1570A>G | XP_011510380.1:p.Asn524Asp | |
| XM_011512079.1:c.1570A>G | XP_011510381.1:p.Asn524Asp | |
| XM_011512080.1:c.1570A>G | XP_011510382.1:p.Asn524Asp | |
| XM_011512081.1:c.-348A>G | XP_011510383.1:n.-348A>G | |
| NM_003742.4:c.1468A>G MANE Select | NP_003733.2:p.Asn490Asp | |
| XM_006712817.3:c.1510A>G | XP_006712880.1:p.Asn504Asp | |
| XM_011512077.2:c.1570A>G | XP_011510379.1:p.Asn524Asp | |
| XM_011512078.2:c.1570A>G | XP_011510380.1:p.Asn524Asp | |
| XM_011512080.2:c.1570A>G | XP_011510382.1:p.Asn524Asp | |
| XM_011512081.2:c.-348A>G | XP_011510383.1:n.-348A>G | |
| XM_017005165.1:c.1570A>G | XP_016860654.1:p.Asn524Asp | |
| XM_017005166.1:c.799A>G | XP_016860655.1:p.Asn267Asp | |
| XM_017005167.1:c.253A>G | XP_016860656.1:p.Asn85Asp |