Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519874T= , CM000674.2:g.52519874T= | GRCh38 |
| NC_000012.11:g.52913658T= , CM000674.1:g.52913658T= | GRCh37 |
| NC_000012.10:g.51199925T= | NCBI36 |
| NG_008297.1:g.5586A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.423A= MANE Select | ENSP00000252242.4:p.Gln141= | |
| ENST00000252242.8:c.423A= | ENSP00000252242.4:p.Gln141= | |
| ENST00000549420.1:c.93A= | ENSP00000447209.1:p.Gln31= | |
| ENST00000551275.1:c.318A= | ENSP00000448041.1:p.Gln106= | |
| ENST00000552629.5:n.521A= | ||
| NM_000424.3:c.423A= | NP_000415.2:p.Gln141= | |
| NM_000424.4:c.423A= MANE Select | NP_000415.2:p.Gln141= |