Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519756A= , CM000674.2:g.52519756A= | GRCh38 |
| NC_000012.11:g.52913540A= , CM000674.1:g.52913540A= | GRCh37 |
| NC_000012.10:g.51199807A= | NCBI36 |
| NG_008297.1:g.5704T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000424.4:c.541T= MANE Select | NP_000415.2:p.Ser181= |
| ENST00000252242.9:c.541T= MANE Select | ENSP00000252242.4:p.Ser181= |
| NM_000424.3:c.541T= | NP_000415.2:p.Ser181= |
| ENST00000252242.8:c.541T= | ENSP00000252242.4:p.Ser181= |
| ENST00000549420.1:c.211T= | ENSP00000447209.1:p.Ser71= |
| ENST00000551275.1:c.436T= | ENSP00000448041.1:p.Ser146= |
| ENST00000552629.5:n.639T= |