Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432306T= , CM000663.2:g.229432306T= | GRCh38 |
| NC_000001.10:g.229568053T= , CM000663.1:g.229568053T= | GRCh37 |
| NC_000001.9:g.227634676T= | NCBI36 |
| NG_006672.1:g.6791A= , LRG_429:g.6791A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.580A= | ENSP00000355644.4:p.Ile194= | |
| ENST00000684723.1:c.445A= | ENSP00000508084.1:p.Ile149= | |
| ENST00000366683.3:c.479+101A= | ENSP00000355644.3:n.479+101A= | |
| ENST00000366684.7:c.580A= MANE Select | ENSP00000355645.3:p.Ile194= | |
| NM_001100.3:c.580A= , LRG_429t1:c.580A= | NP_001091.1:p.Ile194= | |
| NM_001100.4:c.580A= MANE Select | NP_001091.1:p.Ile194= |