Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129532755A= , CM000665.2:g.129532755A= | GRCh38 |
| NC_000003.11:g.129251598A= , CM000665.1:g.129251598A= | GRCh37 |
| NC_000003.10:g.130734288A= | NCBI36 |
| NG_009115.1:g.9117A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.919A= MANE Select | ENSP00000296271.3:p.Ile307= | |
| ENST00000296271.3:c.919A= | ENSP00000296271.3:p.Ile307= | |
| NM_000539.3:c.919A= MANE Select | NP_000530.1:p.Ile307= |