Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129529084C= , CM000665.2:g.129529084C= | GRCh38 |
| NC_000003.11:g.129247927C= , CM000665.1:g.129247927C= | GRCh37 |
| NC_000003.10:g.130730617C= | NCBI36 |
| NG_009115.1:g.5446C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.351C= MANE Select | ENSP00000296271.3:p.Ala117= | |
| ENST00000296271.3:c.351C= | ENSP00000296271.3:p.Ala117= | |
| NM_000539.3:c.351C= MANE Select | NP_000530.1:p.Ala117= |