Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.22877766G= , CM000678.2:g.22877766G= | GRCh38 |
| NC_000016.9:g.22889087G= , CM000678.1:g.22889087G= | GRCh37 |
| NC_000016.8:g.22796588G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261374.4:c.486-37178G= MANE Select | ENSP00000261374.3:n.486-37178G= | |
| ENST00000261374.3:c.486-37178G= | ENSP00000261374.3:n.486-37178G= | |
| ENST00000473392.1:c.*287+22985G= | ENSP00000454505.1:n.*287+22985G= | |
| NM_006043.1:c.486-37178G= | NP_006034.1:n.486-37178G= | |
| NM_006043.2:c.486-37178G= MANE Select | NP_006034.1:n.486-37178G= |