ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
8.4e-7 (NFE)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.34994375A>G , CM000679.2:g.34994375A>G | GRCh38 |
| NC_000017.10:g.33321394A>G , CM000679.1:g.33321394A>G | GRCh37 |
| NC_000017.9:g.30345507A>G | NCBI36 |
| NG_029221.1:g.18878A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378526.9:c.1555A>G MANE Select | ENSP00000367787.3:p.Asn519Asp | |
| ENST00000262327.9:c.1555A>G | ENSP00000262327.4:p.Asn519Asp | |
| ENST00000378526.8:c.1555A>G | ENSP00000367787.3:p.Asn519Asp | |
| ENST00000585941.5:c.1582A>G | ENSP00000468479.1:p.Asn528Asp | |
| ENST00000586058.1:n.189A>G | ||
| ENST00000588713.1:n.101A>G | ||
| ENST00000590630.5:n.548A>G | ||
| NM_002311.4:c.1555A>G | NP_002302.2:p.Asn519Asp | |
| NM_013975.3:c.1555A>G | NP_039269.2:p.Asn519Asp | |
| XM_005257970.2:c.1582A>G | XP_005258027.1:p.Asn528Asp | |
| XM_006721896.2:c.1582A>G | XP_006721959.1:p.Asn528Asp | |
| XM_011524797.1:c.1582A>G | XP_011523099.1:p.Asn528Asp | |
| XM_011524798.1:c.1555A>G | XP_011523100.1:p.Asn519Asp | |
| XM_011524799.1:c.1555A>G | XP_011523101.1:p.Asn519Asp | |
| XM_011524800.1:c.1582A>G | XP_011523102.1:p.Asn528Asp | |
| XM_005257970.4:c.1582A>G | XP_005258027.1:p.Asn528Asp | |
| XM_006721896.3:c.1582A>G | XP_006721959.1:p.Asn528Asp | |
| XM_017024624.1:c.1555A>G | XP_016880113.1:p.Asn519Asp | |
| NM_013975.4:c.1555A>G MANE Select | NP_039269.2:p.Asn519Asp | |
| NM_002311.5:c.1555A>G | NP_002302.2:p.Asn519Asp |