ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00114568 (EAS)
Genomes Max Group AF
0.00271601 (EAS)
Exomes Max Group AF
0.00082617 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64747246T>C , CM000673.2:g.64747246T>C | GRCh38 |
| NC_000011.9:g.64514718T>C , CM000673.1:g.64514718T>C | GRCh37 |
| NC_000011.8:g.64271294T>C | NCBI36 |
| NG_007574.1:g.3211A>G , LRG_100:g.3211A>G | |
| NG_013018.1:g.18470A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.2290A>G MANE Select | ENSP00000164139.3:p.Asn764Asp | |
| ENST00000164139.3:c.2290A>G | ENSP00000164139.3:p.Asn764Asp | |
| ENST00000377432.7:c.2026A>G | ENSP00000366650.3:p.Asn676Asp | |
| ENST00000483742.1:n.1643A>G | ||
| NM_001164716.1:c.2026A>G | NP_001158188.1:p.Asn676Asp | |
| NM_005609.2:c.2290A>G | NP_005600.1:p.Asn764Asp | |
| NM_005609.3:c.2290A>G | NP_005600.1:p.Asn764Asp | |
| NM_005609.4:c.2290A>G MANE Select | NP_005600.1:p.Asn764Asp |