Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102527838G>A , CM000673.2:g.102527838G>A | GRCh38 |
| NC_000011.9:g.102398569G>A , CM000673.1:g.102398569G>A | GRCh37 |
| NC_000011.8:g.101903779G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260227.5:c.254C>T MANE Select | ENSP00000260227.4:p.Pro85Leu | |
| ENST00000260227.4:c.254C>T | ENSP00000260227.4:p.Pro85Leu | |
| ENST00000531200.1:n.301C>T | ||
| ENST00000533366.5:n.304C>T | ||
| NM_002423.3:c.254C>T | NP_002414.1:p.Pro85Leu | |
| NM_002423.4:c.254C>T | NP_002414.1:p.Pro85Leu | |
| NM_002423.5:c.254C>T MANE Select | NP_002414.1:p.Pro85Leu |