Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52515795T= , CM000674.2:g.52515795T= | GRCh38 |
| NC_000012.11:g.52909579T= , CM000674.1:g.52909579T= | GRCh37 |
| NC_000012.10:g.51195846T= | NCBI36 |
| NG_008297.1:g.9665A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000424.4:c.1474+3A= MANE Select | NP_000415.2:n.1474+3A= |
| ENST00000252242.9:c.1474+3A= MANE Select | ENSP00000252242.4:n.1474+3A= |
| NM_000424.3:c.1474+3A= | NP_000415.2:n.1474+3A= |
| ENST00000252242.8:c.1474+3A= | ENSP00000252242.4:n.1474+3A= |
| ENST00000548409.5:c.599A= | |
| ENST00000549511.5:n.681+3A= | |
| ENST00000552952.1:n.399+3A= |