Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122508753A>C , CM000672.2:g.122508753A>C | GRCh38 |
| NC_000010.10:g.124268269A>C , CM000672.1:g.124268269A>C | GRCh37 |
| NC_000010.9:g.124258259A>C | NCBI36 |
| NG_011554.1:g.52229A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.1103A>C MANE Select | ENSP00000357980.3:p.His368Pro | |
| ENST00000648167.1:c.785A>C | ENSP00000498033.1:p.His262Pro | |
| ENST00000368984.7:c.1103A>C | ENSP00000357980.3:p.His368Pro | |
| ENST00000420892.1:c.326A>C | ENSP00000412676.1:p.His109Pro | |
| NM_002775.4:c.1103A>C | NP_002766.1:p.His368Pro | |
| NM_002775.5:c.1103A>C MANE Select | NP_002766.1:p.His368Pro |