Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519775G= , CM000674.2:g.52519775G= | GRCh38 |
| NC_000012.11:g.52913559G= , CM000674.1:g.52913559G= | GRCh37 |
| NC_000012.10:g.51199826G= | NCBI36 |
| NG_008297.1:g.5685C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.522C= MANE Select | ENSP00000252242.4:p.Thr174= | |
| ENST00000252242.8:c.522C= | ENSP00000252242.4:p.Thr174= | |
| ENST00000549420.1:c.192C= | ENSP00000447209.1:p.Thr64= | |
| ENST00000551275.1:c.417C= | ENSP00000448041.1:p.Thr139= | |
| ENST00000552629.5:n.620C= | ||
| NM_000424.3:c.522C= | NP_000415.2:p.Thr174= | |
| NM_000424.4:c.522C= MANE Select | NP_000415.2:p.Thr174= |