Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122506770T>C , CM000672.2:g.122506770T>C | GRCh38 |
| NC_000010.10:g.124266286T>C , CM000672.1:g.124266286T>C | GRCh37 |
| NC_000010.9:g.124256276T>C | NCBI36 |
| NG_011554.1:g.50246T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.857T>C MANE Select | ENSP00000357980.3:p.Phe286Ser | |
| ENST00000648167.1:c.539T>C | ENSP00000498033.1:p.Phe180Ser | |
| ENST00000368984.7:c.857T>C | ENSP00000357980.3:p.Phe286Ser | |
| ENST00000420892.1:c.80T>C | ENSP00000412676.1:p.Phe27Ser | |
| NM_002775.4:c.857T>C | NP_002766.1:p.Phe286Ser | |
| NM_002775.5:c.857T>C MANE Select | NP_002766.1:p.Phe286Ser |