Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.42686386G>T , CM000665.2:g.42686386G>T | GRCh38 |
| NC_000003.11:g.42727878G>T , CM000665.1:g.42727878G>T | GRCh37 |
| NC_000003.10:g.42702882G>T | NCBI36 |
| NG_033035.1:g.5868G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_152393.4:c.768G>T MANE Select | NP_689606.2:p.Met256Ile |
| ENST00000287777.5:c.768G>T MANE Select | ENSP00000287777.4:p.Met256Ile |
| NM_152393.3:c.768G>T | NP_689606.2:p.Met256Ile |
| ENST00000287777.4:c.768G>T | ENSP00000287777.4:p.Met256Ile |
| XM_005264866.2:c.768G>T | XP_005264923.1:p.Met256Ile |