Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.34859082C>T , CM000668.2:g.34859082C>T | GRCh38 |
| NC_000006.11:g.34826859C>T , CM000668.1:g.34826859C>T | GRCh37 |
| NC_000006.10:g.34934837C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000192788.6:c.2726C>T MANE Select | ENSP00000192788.5:p.Ser909Phe | |
| ENST00000192788.5:c.2726C>T | ENSP00000192788.5:p.Ser909Phe | |
| ENST00000452449.6:c.2726C>T | ENSP00000400628.2:p.Ser909Phe | |
| NM_017754.3:c.2726C>T | NP_060224.3:p.Ser909Phe | |
| XM_005249199.3:c.1568C>T | XP_005249256.1:p.Ser523Phe | |
| XM_006715126.2:c.2726C>T | XP_006715189.1:p.Ser909Phe | |
| XM_011514714.1:c.2639C>T | XP_011513016.1:p.Ser880Phe | |
| XM_011514715.1:c.1730C>T | XP_011513017.1:p.Ser577Phe | |
| NM_017754.4:c.2726C>T MANE Select | NP_060224.3:p.Ser909Phe |