Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519715G= , CM000674.2:g.52519715G= | GRCh38 |
| NC_000012.11:g.52913499G= , CM000674.1:g.52913499G= | GRCh37 |
| NC_000012.10:g.51199766G= | NCBI36 |
| NG_008297.1:g.5745C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252242.9:c.555+27C= MANE Select | ENSP00000252242.4:n.555+27C= | |
| ENST00000252242.8:c.555+27C= | ENSP00000252242.4:n.555+27C= | |
| ENST00000549420.1:c.225+27C= | ENSP00000447209.1:n.225+27C= | |
| ENST00000552629.5:n.653+27C= | ||
| NM_000424.3:c.555+27C= | NP_000415.2:n.555+27C= | |
| NM_000424.4:c.555+27C= MANE Select | NP_000415.2:n.555+27C= |