Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129533711C>T , CM000665.2:g.129533711C>T | GRCh38 |
| NC_000003.11:g.129252554C>T , CM000665.1:g.129252554C>T | GRCh37 |
| NC_000003.10:g.130735244C>T | NCBI36 |
| NG_009115.1:g.10073C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000539.3:c.1040C>T MANE Select | NP_000530.1:p.Pro347Leu |
| ENST00000296271.4:c.1040C>T MANE Select | ENSP00000296271.3:p.Pro347Leu |
| ENST00000296271.3:c.1040C>T | ENSP00000296271.3:p.Pro347Leu |