Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47744780C>T , CM000679.2:g.47744780C>T | GRCh38 |
| NC_000017.10:g.45822146C>T , CM000679.1:g.45822146C>T | GRCh37 |
| NC_000017.9:g.43177145C>T | NCBI36 |
| NG_012166.1:g.16537C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000177694.2:c.1022C>T MANE Select | ENSP00000177694.1:p.Ser341Phe | |
| ENST00000177694.1:c.1022C>T | ENSP00000177694.1:p.Ser341Phe | |
| NM_013351.1:c.1022C>T | NP_037483.1:p.Ser341Phe | |
| XM_011524698.1:c.1085C>T | XP_011523000.1:p.Ser362Phe | |
| XM_011524699.1:c.689C>T | XP_011523001.1:p.Ser230Phe | |
| NM_013351.2:c.1022C>T MANE Select | NP_037483.1:p.Ser341Phe |