Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10115526C= , CM000681.2:g.10115526C= | GRCh38 |
| NC_000019.9:g.10226202C= , CM000681.1:g.10226202C= | GRCh37 |
| NC_000019.8:g.10087202C= | NCBI36 |
| NG_047007.1:g.9006C= | |
| NG_051197.1:g.9399G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253108.9:c.900G= MANE Select | ENSP00000253108.3:p.Val300= | |
| ENST00000253108.8:c.900G= | ENSP00000253108.3:p.Val300= | |
| ENST00000590158.1:n.919G= | ||
| ENST00000593054.5:c.294G= | ENSP00000467187.1:p.Val98= | |
| NM_003755.3:c.900G= | NP_003746.2:p.Val300= | |
| NM_003755.4:c.900G= | NP_003746.2:p.Val300= | |
| NM_003755.5:c.900G= MANE Select | NP_003746.2:p.Val300= |