Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154824A>C , CM000681.2:g.55154824A>C | GRCh38 |
| NC_000019.9:g.55666192A>C , CM000681.1:g.55666192A>C | GRCh37 |
| NC_000019.8:g.60358004A>C | NCBI36 |
| NG_007866.2:g.7909T>G , LRG_432:g.7909T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.289T>G MANE Select | ENSP00000341838.5:p.Cys97Gly | |
| ENST00000665070.1:c.289T>G | ENSP00000499482.1:p.Cys97Gly | |
| ENST00000344887.9:c.289T>G | ENSP00000341838.5:p.Cys97Gly | |
| ENST00000585806.5:n.288T>G | ||
| ENST00000586669.5:n.297T>G | ||
| ENST00000587176.5:n.473T>G | ||
| ENST00000587871.1:c.908T>G | ||
| ENST00000588882.1:c.214T>G | ENSP00000466729.1:p.Cys72Gly | |
| ENST00000590463.1:n.461T>G | ||
| NM_000363.4:c.289T>G , LRG_432t1:c.289T>G | NP_000354.4:p.Cys97Gly | |
| NM_000363.5:c.289T>G MANE Select | NP_000354.4:p.Cys97Gly |