gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001426 (SAS)
Exomes Max Group AF
0.00001583 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197090328G>A , CM000663.2:g.197090328G>A | GRCh38 |
| NC_000001.10:g.197059458G>A , CM000663.1:g.197059458G>A | GRCh37 |
| NC_000001.9:g.195326081G>A | NCBI36 |
| NG_015867.1:g.61367C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.2984C>T | ||
| ENST00000367409.9:c.9697C>T MANE Select | ENSP00000356379.4:p.Arg3233Ter | |
| ENST00000680265.1:c.9919C>T | ENSP00000505384.1:p.Arg3307Ter | |
| ENST00000680710.1:c.9673C>T | ENSP00000506676.1:p.Arg3225Ter | |
| ENST00000294732.11:c.4942C>T | ENSP00000294732.7:p.Arg1648Ter | |
| ENST00000367408.5:c.2692C>T | ENSP00000356378.1:p.Arg898Ter | |
| ENST00000367409.8:c.9697C>T | ENSP00000356379.4:p.Arg3233Ter | |
| ENST00000612785.1:c.3655C>T | ENSP00000479244.1:p.Arg1219Ter | |
| NM_001206846.1:c.4942C>T | NP_001193775.1:p.Arg1648Ter | |
| NM_018136.4:c.9697C>T | NP_060606.3:p.Arg3233Ter | |
| NM_018136.5:c.9697C>T MANE Select | NP_060606.3:p.Arg3233Ter | |
| NM_001206846.2:c.4942C>T | NP_001193775.1:p.Arg1648Ter |