gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.124841048G>A , CM000669.2:g.124841048G>A | GRCh38 |
| NC_000007.13:g.124481102G>A , CM000669.1:g.124481102G>A | GRCh37 |
| NC_000007.12:g.124268338G>A | NCBI36 |
| NG_029232.1:g.93936C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357628.8:c.1294C>T MANE Select | ENSP00000350249.3:p.Arg432Ter | |
| ENST00000430927.6:c.1294C>T | ENSP00000397632.2:p.Arg432Ter | |
| ENST00000653241.1:c.1294C>T | ENSP00000499476.1:p.Arg432Ter | |
| ENST00000653274.1:c.1294C>T | ENSP00000499382.1:p.Arg432Ter | |
| ENST00000653819.1:c.*1025C>T | ENSP00000499533.1:n.*1025C>T | |
| ENST00000653892.1:c.*936C>T | ENSP00000499506.1:n.*936C>T | |
| ENST00000654766.1:c.1294C>T | ENSP00000499395.1:p.Arg432Ter | |
| ENST00000655761.1:c.1294C>T | ENSP00000499635.1:p.Arg432Ter | |
| ENST00000657333.1:c.*982C>T | ENSP00000499425.1:n.*982C>T | |
| ENST00000657892.1:c.*1163C>T | ENSP00000499524.1:n.*1163C>T | |
| ENST00000661898.1:c.1294C>T | ENSP00000499528.1:p.Arg432Ter | |
| ENST00000662531.1:c.*1189C>T | ENSP00000499488.1:n.*1189C>T | |
| ENST00000664330.1:c.*1145C>T | ENSP00000499781.1:n.*1145C>T | |
| ENST00000664366.1:c.1294C>T | ENSP00000499290.1:p.Arg432Ter | |
| ENST00000668382.1:c.1294C>T | ENSP00000499546.1:p.Arg432Ter | |
| ENST00000357628.7:c.1294C>T | ENSP00000350249.3:p.Arg432Ter | |
| ENST00000393329.5:c.901C>T | ENSP00000377002.1:p.Arg301Ter | |
| ENST00000466483.1:n.574C>T | ||
| ENST00000607932.5:c.1294C>T | ENSP00000476506.1:p.Arg432Ter | |
| ENST00000608057.5:c.*391C>T | ENSP00000476371.1:n.*391C>T | |
| ENST00000608200.1:c.157C>T | ENSP00000477320.1:p.Arg53Ter | |
| ENST00000609106.5:c.1294C>T | ENSP00000476981.1:p.Arg432Ter | |
| NM_001042594.1:c.901C>T | NP_001036059.1:p.Arg301Ter | |
| NM_015450.2:c.1294C>T | NP_056265.2:p.Arg432Ter | |
| NR_003102.1:n.2015C>T | ||
| NR_003103.1:n.1895C>T | ||
| NR_003104.1:n.1895C>T | ||
| XM_006715917.2:c.1294C>T | XP_006715980.1:p.Arg432Ter | |
| XM_011516006.1:c.901C>T | XP_011514308.1:p.Arg301Ter | |
| XM_011516007.1:c.901C>T | XP_011514309.1:p.Arg301Ter | |
| XM_006715917.4:c.1294C>T | XP_006715980.1:p.Arg432Ter | |
| XM_017011942.2:c.901C>T | XP_016867431.1:p.Arg301Ter | |
| XR_001744618.1:n.1885C>T | ||
| XR_001744619.2:n.1754C>T | ||
| NM_015450.3:c.1294C>T MANE Select | NP_056265.2:p.Arg432Ter | |
| NM_001042594.2:c.901C>T | NP_001036059.1:p.Arg301Ter | |
| NR_003102.2:n.1857C>T | ||
| NR_003103.2:n.1737C>T | ||
| NR_003104.2:n.1737C>T |