Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1256332G>A , CM000678.2:g.1256332G>A | GRCh38 |
| NC_000016.9:g.1306333G>A , CM000678.1:g.1306333G>A | GRCh37 |
| NC_000016.8:g.1246334G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012217.3:c.52G>A MANE Select | NP_036349.1:p.Val18Ile |
| ENST00000211076.5:c.52G>A MANE Select | ENSP00000211076.3:p.Val18Ile |
| NM_012217.2:c.52G>A | NP_036349.1:p.Val18Ile |
| ENST00000211076.4:c.52G>A | ENSP00000211076.3:p.Val18Ile |
| ENST00000397534.6:c.31G>A | ENSP00000380668.2:p.Val11Ile |
| ENST00000711393.1:c.52G>A | ENSP00000518724.1:p.Val18Ile |