Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151615489C>T , CM000668.2:g.151615489C>T | GRCh38 |
| NC_000006.11:g.151936624C>T , CM000668.1:g.151936624C>T | GRCh37 |
| NC_000006.10:g.151978317C>T | NCBI36 |
| NG_021198.1:g.126450C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239374.8:c.1757C>T MANE Select | ENSP00000239374.6:p.Ser586Phe | |
| ENST00000239374.7:c.1757C>T | ENSP00000239374.6:p.Ser586Phe | |
| ENST00000537358.1:n.543C>T | ||
| NM_025059.3:c.1757C>T | NP_079335.2:p.Ser586Phe | |
| XM_011536147.1:c.1775C>T | XP_011534449.1:p.Ser592Phe | |
| XM_011536148.1:c.1574C>T | XP_011534450.1:p.Ser525Phe | |
| XM_011536147.2:c.1775C>T | XP_011534449.1:p.Ser592Phe | |
| XM_011536148.2:c.1574C>T | XP_011534450.1:p.Ser525Phe | |
| XR_001743865.1:n.129+1232G>A | ||
| NM_025059.4:c.1757C>T MANE Select | NP_079335.2:p.Ser586Phe |