gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004346 (EAS)
Genomes Max Group AF
0.00007287 (SAS)
Exomes Max Group AF
0.00003349 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.231275451C>T , CM000663.2:g.231275451C>T | GRCh38 |
| NC_000001.10:g.231411197C>T , CM000663.1:g.231411197C>T | GRCh37 |
| NC_000001.9:g.229477820C>T | NCBI36 |
| NG_008240.1:g.39279C>T | |
| NG_008240.2:g.39279C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366647.9:c.1890C>T MANE Select | ENSP00000355607.4:p.Asn630= | |
| ENST00000644483.1:c.*1576C>T | ENSP00000496537.1:n.*1576C>T | |
| ENST00000366647.8:c.1890C>T | ENSP00000355607.4:p.Asn630= | |
| ENST00000469332.1:n.472C>T | ||
| NM_001316350.1:c.1707C>T | NP_001303279.1:p.Asn569= | |
| NM_014236.3:c.1890C>T | NP_055051.1:p.Asn630= | |
| XM_005273313.3:c.1887C>T | XP_005273370.1:p.Asn629= | |
| XM_011544303.1:c.1563C>T | XP_011542605.1:p.Asn521= | |
| XM_011544304.1:c.1563C>T | XP_011542606.1:p.Asn521= | |
| XM_005273313.4:c.1887C>T | XP_005273370.1:p.Asn629= | |
| XM_011544303.3:c.1563C>T | XP_011542605.1:p.Asn521= | |
| XM_011544304.2:c.1563C>T | XP_011542606.1:p.Asn521= | |
| NM_014236.4:c.1890C>T MANE Select | NP_055051.1:p.Asn630= | |
| NM_001316350.2:c.1707C>T | NP_001303279.1:p.Asn569= |