Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129532289A= , CM000665.2:g.129532289A= | GRCh38 |
| NC_000003.11:g.129251132A= , CM000665.1:g.129251132A= | GRCh37 |
| NC_000003.10:g.130733822A= | NCBI36 |
| NG_009115.1:g.8651A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296271.4:c.569A= MANE Select | ENSP00000296271.3:p.Asp190= | |
| ENST00000296271.3:c.569A= | ENSP00000296271.3:p.Asp190= | |
| NM_000539.3:c.569A= MANE Select | NP_000530.1:p.Asp190= |