Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154828G>C , CM000681.2:g.55154828G>C | GRCh38 |
| NC_000019.9:g.55666196G>C , CM000681.1:g.55666196G>C | GRCh37 |
| NC_000019.8:g.60358008G>C | NCBI36 |
| NG_007866.2:g.7905C>G , LRG_432:g.7905C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.285C>G MANE Select | ENSP00000341838.5:p.Asp95Glu | |
| ENST00000665070.1:c.285C>G | ENSP00000499482.1:p.Asp95Glu | |
| ENST00000344887.9:c.285C>G | ENSP00000341838.5:p.Asp95Glu | |
| ENST00000585806.5:n.284C>G | ||
| ENST00000586669.5:n.293C>G | ||
| ENST00000587176.5:n.469C>G | ||
| ENST00000587871.1:c.904C>G | ||
| ENST00000588882.1:c.210C>G | ENSP00000466729.1:p.Asp70Glu | |
| ENST00000590463.1:n.457C>G | ||
| NM_000363.4:c.285C>G , LRG_432t1:c.285C>G | NP_000354.4:p.Asp95Glu | |
| NM_000363.5:c.285C>G MANE Select | NP_000354.4:p.Asp95Glu |