Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432391C= , CM000663.2:g.229432391C= | GRCh38 |
| NC_000001.10:g.229568138C= , CM000663.1:g.229568138C= | GRCh37 |
| NC_000001.9:g.227634761C= | NCBI36 |
| NG_006672.1:g.6706G= , LRG_429:g.6706G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.495G= | ENSP00000355644.4:p.Val165= | |
| ENST00000684723.1:c.360G= | ENSP00000508084.1:p.Val120= | |
| ENST00000366683.3:c.479+16G= | ENSP00000355644.3:n.479+16G= | |
| ENST00000366684.7:c.495G= MANE Select | ENSP00000355645.3:p.Val165= | |
| NM_001100.3:c.495G= , LRG_429t1:c.495G= | NP_001091.1:p.Val165= | |
| NM_001100.4:c.495G= MANE Select | NP_001091.1:p.Val165= |