Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10115564G= , CM000681.2:g.10115564G= | GRCh38 |
| NC_000019.9:g.10226240G= , CM000681.1:g.10226240G= | GRCh37 |
| NC_000019.8:g.10087240G= | NCBI36 |
| NG_047007.1:g.9044G= | |
| NG_051197.1:g.9361C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253108.9:c.862C= MANE Select | ENSP00000253108.3:p.His288= | |
| ENST00000253108.8:c.862C= | ENSP00000253108.3:p.His288= | |
| ENST00000589454.5:c.838C= | ENSP00000466860.1:p.His280= | |
| ENST00000590158.1:n.881C= | ||
| ENST00000593054.5:c.256C= | ENSP00000467187.1:p.His86= | |
| NM_003755.3:c.862C= | NP_003746.2:p.His288= | |
| NM_003755.4:c.862C= | NP_003746.2:p.His288= | |
| NM_003755.5:c.862C= MANE Select | NP_003746.2:p.His288= |