Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52516676A= , CM000674.2:g.52516676A= | GRCh38 |
| NC_000012.11:g.52910460A= , CM000674.1:g.52910460A= | GRCh37 |
| NC_000012.10:g.51196727A= | NCBI36 |
| NG_008297.1:g.8784T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000424.4:c.1400T= MANE Select | NP_000415.2:p.Ile467= |
| ENST00000252242.9:c.1400T= MANE Select | ENSP00000252242.4:p.Ile467= |
| NM_000424.3:c.1400T= | NP_000415.2:p.Ile467= |
| ENST00000252242.8:c.1400T= | ENSP00000252242.4:p.Ile467= |
| ENST00000548409.5:c.522T= | |
| ENST00000549511.5:n.607T= | |
| ENST00000552629.5:n.1498T= |