Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5233038T= , CM000673.2:g.5233038T= | GRCh38 |
| NC_000011.9:g.5254268T= , CM000673.1:g.5254268T= | GRCh37 |
| NC_000011.8:g.5210844T= | NCBI36 |
| NG_000007.3:g.64578A= | |
| NG_063112.2:g.15620A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643122.1:c.370A= | ENSP00000494708.1:p.Thr124= | |
| ENST00000650601.1:c.370A= MANE Select | ENSP00000497529.1:p.Thr124= | |
| ENST00000292901.7:c.316-240A= | ENSP00000292901.3:n.316-240A= | |
| ENST00000380299.3:c.370A= | ENSP00000369654.3:p.Thr124= | |
| ENST00000417377.1:c.147A= | ENSP00000414741.1:p.Ser49= | |
| NM_000519.3:c.370A= | NP_000510.1:p.Thr124= | |
| NM_000519.4:c.370A= MANE Select | NP_000510.1:p.Thr124= |