Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49991827T>A , CM000679.2:g.49991827T>A | GRCh38 |
| NC_000017.10:g.48069191T>A , CM000679.1:g.48069191T>A | GRCh37 |
| NC_000017.9:g.45424190T>A | NCBI36 |
| NG_023063.1:g.8398A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434704.2:c.554A>T MANE Select | ENSP00000389870.2:p.Lys185Met | |
| ENST00000512495.2:c.194A>T | ENSP00000449976.1:p.Lys65Met | |
| NM_005220.2:c.554A>T | NP_005211.1:p.Lys185Met | |
| XM_011524458.1:c.516+1573A>T | XP_011522760.1:n.516+1573A>T | |
| NM_005220.3:c.554A>T MANE Select | NP_005211.1:p.Lys185Met |