Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431569T= , CM000663.2:g.229431569T= | GRCh38 |
| NC_000001.10:g.229567316T= , CM000663.1:g.229567316T= | GRCh37 |
| NC_000001.9:g.227633939T= | NCBI36 |
| NG_006672.1:g.7528A= , LRG_429:g.7528A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.991-5A= | ENSP00000355644.4:n.991-5A= | |
| ENST00000684723.1:c.929A= | ENSP00000508084.1:p.Gln310= | |
| ENST00000366683.3:c.695A= | ENSP00000355644.3:p.Gln232= | |
| ENST00000366684.7:c.1064A= MANE Select | ENSP00000355645.3:p.Gln355= | |
| NM_001100.3:c.1064A= , LRG_429t1:c.1064A= | NP_001091.1:p.Gln355= | |
| NM_001100.4:c.1064A= MANE Select | NP_001091.1:p.Gln355= |