gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00265887 (EAS)
Genomes Max Group AF
0.00240095 (EAS)
Exomes Max Group AF
0.00256229 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.121839691G>A , CM000666.2:g.121839691G>A | GRCh38 |
| NC_000004.11:g.122760846G>A , CM000666.1:g.122760846G>A | GRCh37 |
| NC_000004.10:g.122980296G>A | NCBI36 |
| NG_009111.1:g.35797C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264499.9:c.1311C>T MANE Select | ENSP00000264499.4:p.Asn437= | |
| ENST00000264499.8:c.1311C>T | ENSP00000264499.4:p.Asn437= | |
| ENST00000506636.1:c.1311C>T | ENSP00000423626.1:p.Asn437= | |
| NM_018190.3:c.1311C>T | NP_060660.2:p.Asn437= | |
| NM_176824.2:c.1311C>T | NP_789794.1:p.Asn437= | |
| XM_005263106.2:c.1314C>T | XP_005263163.1:p.Asn438= | |
| XM_011532079.1:c.1359C>T | XP_011530381.1:p.Asn453= | |
| XM_011532080.1:c.1356C>T | XP_011530382.1:p.Asn452= | |
| XM_011532081.1:c.1359C>T | XP_011530383.1:p.Asn453= | |
| XM_005263106.4:c.1314C>T | XP_005263163.1:p.Asn438= | |
| XM_011532079.3:c.1359C>T | XP_011530381.1:p.Asn453= | |
| XM_011532080.3:c.1356C>T | XP_011530382.1:p.Asn452= | |
| XM_011532081.3:c.1359C>T | XP_011530383.1:p.Asn453= | |
| XM_017008357.2:c.1311C>T | XP_016863846.1:p.Asn437= | |
| XM_017008358.2:c.1314C>T | XP_016863847.1:p.Asn438= | |
| NM_176824.3:c.1311C>T MANE Select | NP_789794.1:p.Asn437= | |
| NM_018190.4:c.1311C>T | NP_060660.2:p.Asn437= |