HGVS | Genome Assembly |
---|---|
NC_000003.12:g.180659539A>C , CM000665.2:g.180659539A>C | GRCh38 |
NC_000003.11:g.180377327A>C , CM000665.1:g.180377327A>C | GRCh37 |
NC_000003.10:g.181860021A>C | NCBI36 |
NG_029581.1:g.24957T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000476379.6:c.651T>G MANE Select | ENSP00000417960.2:p.His217Gln | |
ENST00000650641.1:n.730T>G | ||
ENST00000650889.1:n.823T>G | ||
ENST00000651046.1:c.651T>G | ENSP00000499175.1:p.His217Gln | |
ENST00000651818.1:n.793T>G | ||
ENST00000652024.1:n.742T>G | ||
ENST00000652408.1:n.788T>G | ||
ENST00000442201.6:c.651T>G | ENSP00000405708.2:p.His217Gln | |
ENST00000476379.5:c.651T>G | ENSP00000417960.1:p.His217Gln | |
NM_181426.1:c.651T>G | NP_852091.1:p.His217Gln | |
NM_181426.2:c.651T>G MANE Select | NP_852091.1:p.His217Gln |