Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10115574G= , CM000681.2:g.10115574G= | GRCh38 |
| NC_000019.9:g.10226250G= , CM000681.1:g.10226250G= | GRCh37 |
| NC_000019.8:g.10087250G= | NCBI36 |
| NG_047007.1:g.9054G= | |
| NG_051197.1:g.9351C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253108.9:c.852C= MANE Select | ENSP00000253108.3:p.Phe284= | |
| ENST00000253108.8:c.852C= | ENSP00000253108.3:p.Phe284= | |
| ENST00000589454.5:c.828C= | ENSP00000466860.1:p.Phe276= | |
| ENST00000590158.1:n.871C= | ||
| ENST00000593054.5:c.246C= | ENSP00000467187.1:p.Phe82= | |
| NM_003755.3:c.852C= | NP_003746.2:p.Phe284= | |
| NM_003755.4:c.852C= | NP_003746.2:p.Phe284= | |
| NM_003755.5:c.852C= MANE Select | NP_003746.2:p.Phe284= |