gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004373 (AFR)
Exomes Max Group AF
0.00007713 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.125317554C>T , CM000666.2:g.125317554C>T | GRCh38 |
| NC_000004.11:g.126238709C>T , CM000666.1:g.126238709C>T | GRCh37 |
| NC_000004.10:g.126458159C>T | NCBI36 |
| NG_033865.1:g.6143C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394329.9:c.1143C>T MANE Select | ENSP00000377862.4:p.Thr381= | |
| ENST00000674496.2:c.-55+1577C>T | ENSP00000501473.2:n.-55+1577C>T | |
| ENST00000394329.7:c.1143C>T | ENSP00000377862.3:p.Thr381= | |
| NM_001291285.1:c.1143C>T | NP_001278214.1:p.Thr381= | |
| NM_001291303.1:c.1143C>T | NP_001278232.1:p.Thr381= | |
| NM_024582.4:c.1143C>T | NP_078858.4:p.Thr381= | |
| XM_011532236.1:c.1143C>T | XP_011530538.1:p.Thr381= | |
| XM_011532237.1:c.-55+1577C>T | XP_011530539.1:n.-55+1577C>T | |
| XM_011532236.2:c.1143C>T | XP_011530538.1:p.Thr381= | |
| XM_011532237.2:c.-55+1577C>T | XP_011530539.1:n.-55+1577C>T | |
| NM_001291285.2:c.1143C>T | NP_001278214.1:p.Thr381= | |
| NM_001291303.3:c.1143C>T MANE Select | NP_001278232.1:p.Thr381= | |
| NM_024582.5:c.1143C>T | NP_078858.4:p.Thr381= | |
| NM_001291285.3:c.1143C>T | NP_001278214.1:p.Thr381= | |
| NM_024582.6:c.1143C>T | NP_078858.4:p.Thr381= |