Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87050458A= , CM000672.2:g.87050458A= | GRCh38 |
| NC_000010.10:g.88810215A= , CM000672.1:g.88810215A= | GRCh37 |
| NC_000010.9:g.88800195A= | NCBI36 |
| NG_013010.1:g.49562T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000277865.5:c.*1293T= MANE Select | ENSP00000277865.4:n.*1293T= | |
| NM_005271.3:c.*1293T= | NP_005262.1:n.*1293T= | |
| NM_001318900.1:c.*1293T= | NP_001305829.1:n.*1293T= | |
| NM_001318901.1:c.*1293T= | NP_001305830.1:n.*1293T= | |
| NM_001318902.1:c.*1293T= | NP_001305831.1:n.*1293T= | |
| NM_001318904.1:c.*1293T= | NP_001305833.1:n.*1293T= | |
| NM_001318905.1:c.*1293T= | NP_001305834.1:n.*1293T= | |
| NM_001318906.1:c.*1293T= | NP_001305835.1:n.*1293T= | |
| NM_005271.4:c.*1293T= | NP_005262.1:n.*1293T= | |
| NM_005271.5:c.*1293T= MANE Select | NP_005262.1:n.*1293T= | |
| NM_001318904.2:c.*1293T= | NP_001305833.1:n.*1293T= | |
| NM_001318905.2:c.*1293T= | NP_001305834.1:n.*1293T= | |
| NM_001318906.2:c.*1293T= | NP_001305835.1:n.*1293T= |