Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431558T= , CM000663.2:g.229431558T= | GRCh38 |
| NC_000001.10:g.229567305T= , CM000663.1:g.229567305T= | GRCh37 |
| NC_000001.9:g.227633928T= | NCBI36 |
| NG_006672.1:g.7539A= , LRG_429:g.7539A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001100.4:c.1075A= MANE Select | NP_001091.1:p.Ile359= |
| ENST00000366684.7:c.1075A= MANE Select | ENSP00000355645.3:p.Ile359= |
| NM_001100.3:c.1075A= , LRG_429t1:c.1075A= | NP_001091.1:p.Ile359= |
| ENST00000366683.3:c.706A= | ENSP00000355644.3:p.Ile236= |
| ENST00000366683.4:c.997A= | ENSP00000355644.4:p.Ile333= |
| ENST00000684723.1:c.940A= | ENSP00000508084.1:p.Ile314= |