Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129529113T= , CM000665.2:g.129529113T= | GRCh38 |
| NC_000003.11:g.129247956T= , CM000665.1:g.129247956T= | GRCh37 |
| NC_000003.10:g.130730646T= | NCBI36 |
| NG_009115.1:g.5475T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.361+19T= MANE Select | ENSP00000296271.3:n.361+19T= | |
| ENST00000296271.3:c.361+19T= | ENSP00000296271.3:n.361+19T= | |
| NM_000539.3:c.361+19T= MANE Select | NP_000530.1:n.361+19T= |