Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432134A= , CM000663.2:g.229432134A= | GRCh38 |
| NC_000001.10:g.229567881A= , CM000663.1:g.229567881A= | GRCh37 |
| NC_000001.9:g.227634504A= | NCBI36 |
| NG_006672.1:g.6963T= , LRG_429:g.6963T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001100.4:c.668T= MANE Select | NP_001091.1:p.Leu223= |
| ENST00000366684.7:c.668T= MANE Select | ENSP00000355645.3:p.Leu223= |
| NM_001100.3:c.668T= , LRG_429t1:c.668T= | NP_001091.1:p.Leu223= |
| ENST00000366683.3:c.480-272T= | ENSP00000355644.3:n.480-272T= |
| ENST00000366683.4:c.668T= | ENSP00000355644.4:p.Leu223= |
| ENST00000684723.1:c.533T= | ENSP00000508084.1:p.Leu178= |