Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52516559T= , CM000674.2:g.52516559T= | GRCh38 |
| NC_000012.11:g.52910343T= , CM000674.1:g.52910343T= | GRCh37 |
| NC_000012.10:g.51196610T= | NCBI36 |
| NG_008297.1:g.8901A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.1439+78A= MANE Select | ENSP00000252242.4:n.1439+78A= | |
| ENST00000252242.8:c.1439+78A= | ENSP00000252242.4:n.1439+78A= | |
| ENST00000548409.5:c.561+78A= | ||
| ENST00000549511.5:n.646+78A= | ||
| ENST00000552629.5:n.1615A= | ||
| NM_000424.3:c.1439+78A= | NP_000415.2:n.1439+78A= | |
| NM_000424.4:c.1439+78A= MANE Select | NP_000415.2:n.1439+78A= |