Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122508719T>C , CM000672.2:g.122508719T>C | GRCh38 |
| NC_000010.10:g.124268235T>C , CM000672.1:g.124268235T>C | GRCh37 |
| NC_000010.9:g.124258225T>C | NCBI36 |
| NG_011554.1:g.52195T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.1069T>C MANE Select | ENSP00000357980.3:p.Ser357Pro | |
| ENST00000648167.1:c.751T>C | ENSP00000498033.1:p.Ser251Pro | |
| ENST00000368984.7:c.1069T>C | ENSP00000357980.3:p.Ser357Pro | |
| ENST00000420892.1:c.292T>C | ENSP00000412676.1:p.Ser98Pro | |
| NM_002775.4:c.1069T>C | NP_002766.1:p.Ser357Pro | |
| NM_002775.5:c.1069T>C MANE Select | NP_002766.1:p.Ser357Pro |