Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7502623A>T , CM000679.2:g.7502623A>T | GRCh38 |
| NC_000017.10:g.7405942A>T , CM000679.1:g.7405942A>T | GRCh37 |
| NC_000017.9:g.7346666A>T | NCBI36 |
| NG_027747.1:g.23245A>T | |
| NG_027747.2:g.23245A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617998.6:n.3077A>T | ||
| ENST00000674977.2:c.2678A>T | ENSP00000502190.2:p.Glu893Val | |
| ENST00000576114.1:n.144A>T | ||
| ENST00000617998.4:c.2678A>T | ENSP00000480158.1:p.Glu893Val | |
| ENST00000621442.4:c.2678A>T | ENSP00000483957.1:p.Glu893Val | |
| NM_000937.4:c.2678A>T | NP_000928.1:p.Glu893Val | |
| NM_000937.5:c.2678A>T MANE Select | NP_000928.1:p.Glu893Val |