Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.181485360T= , CM000664.2:g.181485360T= | GRCh38 |
| NC_000002.11:g.182350087T= , CM000664.1:g.182350087T= | GRCh37 |
| NC_000002.10:g.182058332T= | NCBI36 |
| NG_050623.1:g.33469T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000885.6:c.1042-521T= MANE Select | NP_000876.3:n.1042-521T= |
| ENST00000397033.7:c.1042-521T= MANE Select | ENSP00000380227.2:n.1042-521T= |
| NM_000885.4:c.1042-521T= | NP_000876.3:n.1042-521T= |
| NM_000885.5:c.1042-521T= | NP_000876.3:n.1042-521T= |
| ENST00000233573.6:c.1042-521T= | ENSP00000233573.6:n.1042-521T= |
| ENST00000397033.6:c.1042-521T= | ENSP00000380227.2:n.1042-521T= |
| ENST00000465522.5:n.1293-521T= |