Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10115528C>A , CM000681.2:g.10115528C>A | GRCh38 |
| NC_000019.9:g.10226204C>A , CM000681.1:g.10226204C>A | GRCh37 |
| NC_000019.8:g.10087204C>A | NCBI36 |
| NG_047007.1:g.9008C>A | |
| NG_051197.1:g.9397G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253108.9:c.898G>T MANE Select | ENSP00000253108.3:p.Val300Leu | |
| ENST00000253108.8:c.898G>T | ENSP00000253108.3:p.Val300Leu | |
| ENST00000590158.1:n.917G>T | ||
| ENST00000593054.5:c.292G>T | ENSP00000467187.1:p.Val98Leu | |
| NM_003755.3:c.898G>T | NP_003746.2:p.Val300Leu | |
| NM_003755.4:c.898G>T | NP_003746.2:p.Val300Leu | |
| NM_003755.5:c.898G>T MANE Select | NP_003746.2:p.Val300Leu |