gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002313 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00002116 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235664584G>A , CM000663.2:g.235664584G>A | GRCh38 |
| NC_000001.10:g.235827884G>A , CM000663.1:g.235827884G>A | GRCh37 |
| NC_000001.9:g.233894507G>A | NCBI36 |
| NG_007397.1:g.224057C>T , LRG_143:g.224057C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000462376.2:n.2486C>T | ||
| ENST00000697178.1:c.*7062C>T | ENSP00000513163.1:n.*7062C>T | |
| ENST00000697235.1:c.1626C>T | ENSP00000513202.1:p.Asn542= | |
| ENST00000697236.1:c.4540C>T | ENSP00000513203.1:n.4540C>T | |
| ENST00000697237.1:c.1787C>T | ||
| ENST00000697238.1:n.230C>T | ||
| ENST00000697239.1:n.470C>T | ||
| ENST00000697240.1:c.3173-30C>T | ENSP00000513205.1:n.3173-30C>T | |
| ENST00000389793.7:c.11076C>T MANE Select | ENSP00000374443.2:p.Asn3692= | |
| ENST00000389793.6:c.11076C>T | ENSP00000374443.2:p.Asn3692= | |
| ENST00000389794.7:c.*6500C>T | ENSP00000374444.4:n.*6500C>T | |
| ENST00000473037.5:n.6066C>T | ||
| NM_000081.3:c.11076C>T , LRG_143t1:c.11076C>T | NP_000072.2:p.Asn3692= | |
| NM_001301365.1:c.11076C>T , LRG_143t2:c.11076C>T | NP_001288294.1:p.Asn3692= | |
| XM_011544031.1:c.11238C>T | XP_011542333.1:p.Asn3746= | |
| XM_011544032.1:c.11238C>T | XP_011542334.1:p.Asn3746= | |
| XM_011544033.1:c.11238C>T | XP_011542335.1:p.Asn3746= | |
| XM_011544034.1:c.11100C>T | XP_011542336.1:p.Asn3700= | |
| XM_011544036.1:c.8901C>T | XP_011542338.1:p.Asn2967= | |
| XM_011544033.2:c.11238C>T | XP_011542335.1:p.Asn3746= | |
| XM_011544036.2:c.8901C>T | XP_011542338.1:p.Asn2967= | |
| XM_017000150.1:c.11007C>T | XP_016855639.1:p.Asn3669= | |
| NM_000081.4:c.11076C>T MANE Select | NP_000072.2:p.Asn3692= |