Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506721T>G , CM000672.2:g.122506721T>G | GRCh38 |
| NC_000010.10:g.124266237T>G , CM000672.1:g.124266237T>G | GRCh37 |
| NC_000010.9:g.124256227T>G | NCBI36 |
| NG_011554.1:g.50197T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.808T>G MANE Select | ENSP00000357980.3:p.Ser270Ala | |
| ENST00000648167.1:c.490T>G | ENSP00000498033.1:p.Ser164Ala | |
| ENST00000368984.7:c.808T>G | ENSP00000357980.3:p.Ser270Ala | |
| ENST00000420892.1:c.31T>G | ENSP00000412676.1:p.Ser11Ala | |
| NM_002775.4:c.808T>G | NP_002766.1:p.Ser270Ala | |
| NM_002775.5:c.808T>G MANE Select | NP_002766.1:p.Ser270Ala |