gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49723293G>A , CM000665.2:g.49723293G>A | GRCh38 |
| NC_000003.11:g.49760726G>A , CM000665.1:g.49760726G>A | GRCh37 |
| NC_000003.10:g.49735730G>A | NCBI36 |
| NG_011603.1:g.38737G>A | |
| NG_033731.1:g.5682C>T | |
| NG_033731.2:g.5682C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308388.7:c.220C>T MANE Select | ENSP00000311130.6:p.Arg74Ter | |
| ENST00000481959.2:n.437C>T | ||
| ENST00000495627.2:c.220C>T | ENSP00000503768.1:p.Arg74Ter | |
| ENST00000677393.1:c.220C>T | ENSP00000503880.1:p.Arg74Ter | |
| ENST00000678010.1:c.220C>T | ENSP00000503176.1:p.Arg74Ter | |
| ENST00000678208.1:n.437C>T | ||
| ENST00000678853.1:c.220C>T | ENSP00000504692.1:p.Arg74Ter | |
| ENST00000308375.10:c.220C>T | ENSP00000309092.6:p.Arg74Ter | |
| ENST00000308388.6:c.220C>T | ENSP00000311130.6:p.Arg74Ter | |
| ENST00000480687.5:c.220C>T | ENSP00000418565.1:p.Arg74Ter | |
| ENST00000481959.1:n.522C>T | ||
| ENST00000495627.1:n.410C>T | ||
| NM_013334.3:c.220C>T | NP_037466.2:p.Arg74Ter | |
| NM_021971.2:c.220C>T | NP_068806.1:p.Arg74Ter | |
| NM_021971.4:c.220C>T MANE Select | NP_068806.2:p.Arg74Ter | |
| NM_013334.4:c.220C>T | NP_037466.3:p.Arg74Ter |