Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432085T= , CM000663.2:g.229432085T= | GRCh38 |
| NC_000001.10:g.229567832T= , CM000663.1:g.229567832T= | GRCh37 |
| NC_000001.9:g.227634455T= | NCBI36 |
| NG_006672.1:g.7012A= , LRG_429:g.7012A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.717A= | ENSP00000355644.4:p.Glu239= | |
| ENST00000684723.1:c.582A= | ENSP00000508084.1:p.Glu194= | |
| ENST00000366683.3:c.480-223A= | ENSP00000355644.3:n.480-223A= | |
| ENST00000366684.7:c.717A= MANE Select | ENSP00000355645.3:p.Glu239= | |
| NM_001100.3:c.717A= , LRG_429t1:c.717A= | NP_001091.1:p.Glu239= | |
| NM_001100.4:c.717A= MANE Select | NP_001091.1:p.Glu239= |