Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180659539A>T , CM000665.2:g.180659539A>T | GRCh38 |
| NC_000003.11:g.180377327A>T , CM000665.1:g.180377327A>T | GRCh37 |
| NC_000003.10:g.181860021A>T | NCBI36 |
| NG_029581.1:g.24957T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.651T>A MANE Select | ENSP00000417960.2:p.His217Gln | |
| ENST00000650641.1:n.730T>A | ||
| ENST00000650889.1:n.823T>A | ||
| ENST00000651046.1:c.651T>A | ENSP00000499175.1:p.His217Gln | |
| ENST00000651818.1:n.793T>A | ||
| ENST00000652024.1:n.742T>A | ||
| ENST00000652408.1:n.788T>A | ||
| ENST00000442201.6:c.651T>A | ENSP00000405708.2:p.His217Gln | |
| ENST00000476379.5:c.651T>A | ENSP00000417960.1:p.His217Gln | |
| NM_181426.1:c.651T>A | NP_852091.1:p.His217Gln | |
| NM_181426.2:c.651T>A MANE Select | NP_852091.1:p.His217Gln |