Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180659456G>T , CM000665.2:g.180659456G>T | GRCh38 |
| NC_000003.11:g.180377244G>T , CM000665.1:g.180377244G>T | GRCh37 |
| NC_000003.10:g.181859938G>T | NCBI36 |
| NG_029581.1:g.25040C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.734C>A MANE Select | ENSP00000417960.2:p.Ala245Asp | |
| ENST00000650641.1:n.813C>A | ||
| ENST00000650889.1:n.906C>A | ||
| ENST00000651046.1:c.734C>A | ENSP00000499175.1:p.Ala245Asp | |
| ENST00000651818.1:n.876C>A | ||
| ENST00000652024.1:n.825C>A | ||
| ENST00000652408.1:n.871C>A | ||
| ENST00000442201.6:c.734C>A | ENSP00000405708.2:p.Ala245Asp | |
| ENST00000476379.5:c.734C>A | ENSP00000417960.1:p.Ala245Asp | |
| NM_181426.1:c.734C>A | NP_852091.1:p.Ala245Asp | |
| NM_181426.2:c.734C>A MANE Select | NP_852091.1:p.Ala245Asp |