Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110589949T>G , CM000672.2:g.110589949T>G | GRCh38 |
| NC_000010.10:g.112349707T>G , CM000672.1:g.112349707T>G | GRCh37 |
| NC_000010.9:g.112339697T>G | NCBI36 |
| NG_012217.1:g.27259T>G , LRG_774:g.27259T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684797.1:n.1367T>G | ||
| ENST00000684988.1:n.2112T>G | ||
| ENST00000687823.1:n.1381T>G | ||
| ENST00000689932.1:n.3530T>G | ||
| ENST00000691297.1:n.1600T>G | ||
| ENST00000691527.1:n.2270T>G | ||
| ENST00000692792.1:n.1586T>G | ||
| ENST00000361804.5:c.1467T>G MANE Select | ENSP00000354720.5:p.Asp489Glu | |
| ENST00000361804.4:c.1467T>G | ENSP00000354720.4:p.Asp489Glu | |
| NM_005445.3:c.1467T>G , LRG_774t1:c.1467T>G | NP_005436.1:p.Asp489Glu | |
| NM_005445.4:c.1467T>G MANE Select | NP_005436.1:p.Asp489Glu |