Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57565683A>T , CM000682.2:g.57565683A>T | GRCh38 |
| NC_000020.10:g.56140739A>T , CM000682.1:g.56140739A>T | GRCh37 |
| NC_000020.9:g.55574145A>T | NCBI36 |
| NG_008205.1:g.9603A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.1748A>T MANE Select | ENSP00000319814.4:p.Glu583Val | |
| ENST00000319441.5:c.1748A>T | ENSP00000319814.4:p.Glu583Val | |
| ENST00000467047.1:n.4390A>T | ||
| NM_002591.3:c.1748A>T | NP_002582.3:p.Glu583Val | |
| XM_011528839.1:c.1352A>T | XP_011527141.1:p.Glu451Val | |
| XM_024451888.1:c.1352A>T | XP_024307656.1:p.Glu451Val | |
| NM_002591.4:c.1748A>T MANE Select | NP_002582.3:p.Glu583Val |