Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519869A= , CM000674.2:g.52519869A= | GRCh38 |
| NC_000012.11:g.52913653A= , CM000674.1:g.52913653A= | GRCh37 |
| NC_000012.10:g.51199920A= | NCBI36 |
| NG_008297.1:g.5591T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.428T= MANE Select | ENSP00000252242.4:p.Val143= | |
| ENST00000252242.8:c.428T= | ENSP00000252242.4:p.Val143= | |
| ENST00000549420.1:c.98T= | ENSP00000447209.1:p.Val33= | |
| ENST00000551275.1:c.323T= | ENSP00000448041.1:p.Val108= | |
| ENST00000552629.5:n.526T= | ||
| NM_000424.3:c.428T= | NP_000415.2:p.Val143= | |
| NM_000424.4:c.428T= MANE Select | NP_000415.2:p.Val143= |