Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110582048T>G , CM000672.2:g.110582048T>G | GRCh38 |
| NC_000010.10:g.112341806T>G , CM000672.1:g.112341806T>G | GRCh37 |
| NC_000010.9:g.112331796T>G | NCBI36 |
| NG_012217.1:g.19358T>G , LRG_774:g.19358T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.806T>G | ||
| ENST00000687823.1:n.587T>G | ||
| ENST00000689932.1:n.2736T>G | ||
| ENST00000691297.1:n.806T>G | ||
| ENST00000691527.1:n.1476T>G | ||
| ENST00000692792.1:n.792T>G | ||
| ENST00000361804.5:c.673T>G MANE Select | ENSP00000354720.5:p.Tyr225Asp | |
| ENST00000361804.4:c.673T>G | ENSP00000354720.4:p.Tyr225Asp | |
| NM_005445.3:c.673T>G , LRG_774t1:c.673T>G | NP_005436.1:p.Tyr225Asp | |
| NM_005445.4:c.673T>G MANE Select | NP_005436.1:p.Tyr225Asp |