Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.90915565G>A , CM000672.2:g.90915565G>A | GRCh38 |
| NC_000010.10:g.92675322G>A , CM000672.1:g.92675322G>A | GRCh37 |
| NC_000010.9:g.92665302G>A | NCBI36 |
| NG_023227.1:g.10711C>T , LRG_379:g.10711C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371697.4:c.827C>T MANE Select | ENSP00000360762.3:p.Ala276Val | |
| ENST00000371697.3:c.827C>T | ENSP00000360762.3:p.Ala276Val | |
| NM_014391.2:c.827C>T , LRG_379t1:c.827C>T | NP_055206.2:p.Ala276Val | |
| NM_014391.3:c.827C>T MANE Select | NP_055206.2:p.Ala276Val |