gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.55448434 (SAS)
Genomes Max Group AF
0.53989745 (SAS)
Exomes Max Group AF
0.55443294 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.6861610C>T , CM000665.2:g.6861610C>T | GRCh38 |
| NC_000003.11:g.6903297C>T , CM000665.1:g.6903297C>T | GRCh37 |
| NC_000003.10:g.6878297C>T | NCBI36 |
| NG_029781.1:g.5496C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357716.9:c.222C>T MANE Select | ENSP00000350348.4:p.Asn74= | |
| ENST00000357716.8:c.222C>T | ENSP00000350348.4:p.Asn74= | |
| ENST00000389335.7:c.222C>T | ENSP00000373986.3:p.Asn74= | |
| ENST00000389336.8:c.222C>T | ENSP00000373987.4:p.Asn74= | |
| ENST00000440923.7:c.222C>T | ENSP00000412329.3:p.Asn74= | |
| ENST00000443259.1:c.*29-22610C>T | ENSP00000404161.1:n.*29-22610C>T | |
| ENST00000448328.6:c.-106+32906C>T | ENSP00000393799.2:n.-106+32906C>T | |
| ENST00000467425.5:c.222C>T | ENSP00000419835.1:p.Asn74= | |
| ENST00000486284.5:c.222C>T | ENSP00000417536.1:p.Asn74= | |
| NM_000844.3:c.222C>T | NP_000835.1:p.Asn74= | |
| NM_181874.2:c.222C>T | NP_870989.1:p.Asn74= | |
| XR_940422.1:n.514C>T | ||
| XR_001740134.2:n.496C>T | ||
| XR_001740135.2:n.496C>T | ||
| XR_001740136.2:n.496C>T | ||
| XR_001740137.2:n.496C>T | ||
| NM_000844.4:c.222C>T MANE Select | NP_000835.1:p.Asn74= | |
| NM_181874.3:c.222C>T | NP_870989.1:p.Asn74= |