Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506703G>T , CM000672.2:g.122506703G>T | GRCh38 |
| NC_000010.10:g.124266219G>T , CM000672.1:g.124266219G>T | GRCh37 |
| NC_000010.9:g.124256209G>T | NCBI36 |
| NG_011554.1:g.50179G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.790G>T MANE Select | ENSP00000357980.3:p.Val264Phe | |
| ENST00000648167.1:c.472G>T | ENSP00000498033.1:p.Val158Phe | |
| ENST00000368984.7:c.790G>T | ENSP00000357980.3:p.Val264Phe | |
| ENST00000420892.1:c.13G>T | ENSP00000412676.1:p.Val5Phe | |
| NM_002775.4:c.790G>T | NP_002766.1:p.Val264Phe | |
| NM_002775.5:c.790G>T MANE Select | NP_002766.1:p.Val264Phe |