Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7881087T= , CM000668.2:g.7881087T= | GRCh38 |
| NC_000006.11:g.7881320T= , CM000668.1:g.7881320T= | GRCh37 |
| NC_000006.10:g.7826319T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000283147.7:c.*744T= MANE Select | ENSP00000283147.6:n.*744T= | |
| ENST00000283147.6:c.*744T= | ENSP00000283147.6:n.*744T= | |
| NM_001718.4:c.*744T= | NP_001709.1:n.*744T= | |
| NM_001718.5:c.*744T= | NP_001709.1:n.*744T= | |
| NM_001718.6:c.*744T= MANE Select | NP_001709.1:n.*744T= |