Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10115538G= , CM000681.2:g.10115538G= | GRCh38 |
| NC_000019.9:g.10226214G= , CM000681.1:g.10226214G= | GRCh37 |
| NC_000019.8:g.10087214G= | NCBI36 |
| NG_047007.1:g.9018G= | |
| NG_051197.1:g.9387C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253108.9:c.888C= MANE Select | ENSP00000253108.3:p.Ala296= | |
| ENST00000253108.8:c.888C= | ENSP00000253108.3:p.Ala296= | |
| ENST00000589454.5:c.864C= | ENSP00000466860.1:p.Ala288= | |
| ENST00000590158.1:n.907C= | ||
| ENST00000593054.5:c.282C= | ENSP00000467187.1:p.Ala94= | |
| NM_003755.3:c.888C= | NP_003746.2:p.Ala296= | |
| NM_003755.4:c.888C= | NP_003746.2:p.Ala296= | |
| NM_003755.5:c.888C= MANE Select | NP_003746.2:p.Ala296= |