Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143485157C>T , CM000668.2:g.143485157C>T | GRCh38 |
| NC_000006.11:g.143806294C>T , CM000668.1:g.143806294C>T | GRCh37 |
| NC_000006.10:g.143847987C>T | NCBI36 |
| NG_008459.1:g.39377C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367591.5:c.947C>T MANE Select | ENSP00000356563.4:p.Ser316Phe | |
| ENST00000367591.4:c.947C>T | ENSP00000356563.4:p.Ser316Phe | |
| ENST00000585848.1:n.86C>T | ||
| NM_003630.2:c.947C>T | NP_003621.1:p.Ser316Phe | |
| NM_003630.3:c.947C>T MANE Select | NP_003621.1:p.Ser316Phe |