Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10412629C= , CM000682.2:g.10412629C= | GRCh38 |
| NC_000020.10:g.10393277C= , CM000682.1:g.10393277C= | GRCh37 |
| NC_000020.9:g.10341277C= | NCBI36 |
| NG_009109.1:g.26590G= | |
| NG_009109.2:g.26590G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651692.1:c.886G= | ENSP00000498849.1:p.Val296= | |
| ENST00000652676.1:n.530G= | ||
| ENST00000347364.7:c.886G= MANE Select | ENSP00000246062.4:p.Val296= | |
| ENST00000399054.6:c.886G= | ENSP00000382008.2:p.Val296= | |
| NM_018848.3:c.886G= | NP_061336.1:p.Val296= | |
| NM_170784.2:c.886G= | NP_740754.1:p.Val296= | |
| NR_072977.1:n.364-3826G= | ||
| NR_072977.2:n.347-3826G= | ||
| NM_170784.3:c.886G= MANE Select | NP_740754.1:p.Val296= |