Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454375A>T , CM000679.2:g.7454375A>T | GRCh38 |
| NC_000017.10:g.7357694A>T , CM000679.1:g.7357694A>T | GRCh37 |
| NC_000017.9:g.7298418A>T | NCBI36 |
| NG_008026.1:g.14289A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.899A>T MANE Select | ENSP00000304290.2:p.Glu300Val | |
| ENST00000306071.6:c.899A>T | ENSP00000304290.2:p.Glu300Val | |
| ENST00000536404.6:c.683A>T | ENSP00000439209.2:p.Glu228Val | |
| ENST00000570557.5:c.562A>T | ||
| ENST00000573209.1:n.1843A>T | ||
| ENST00000576360.1:c.605-69A>T | ENSP00000459092.1:n.605-69A>T | |
| NM_000747.2:c.899A>T | NP_000738.2:p.Glu300Val | |
| NM_000747.3:c.899A>T MANE Select | NP_000738.2:p.Glu300Val |