Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94981174T= , CM000672.2:g.94981174T= | GRCh38 |
| NC_000010.10:g.96740931T= , CM000672.1:g.96740931T= | GRCh37 |
| NC_000010.9:g.96730921T= | NCBI36 |
| NG_008385.1:g.47517T= | |
| NG_008385.2:g.48017T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.962-9T= MANE Select | ENSP00000260682.6:n.962-9T= | |
| ENST00000643112.1:c.820-9T= | ENSP00000496202.1:n.820-9T= | |
| ENST00000260682.6:c.962-9T= | ENSP00000260682.6:n.962-9T= | |
| NM_000771.3:c.962-9T= | NP_000762.2:n.962-9T= | |
| NM_000771.4:c.962-9T= MANE Select | NP_000762.2:n.962-9T= |