HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31269343C>A , CM000668.2:g.31269343C>A | GRCh38 |
NC_000006.11:g.31237120C>A , CM000668.1:g.31237120C>A | GRCh37 |
NC_000006.10:g.31345099C>A | NCBI36 |
NG_029422.2:g.7789G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.1091G>T MANE Select | ENSP00000365402.5:p.Cys364Phe | |
ENST00000376228.9:c.1091G>T | ENSP00000365402.5:p.Cys364Phe | |
ENST00000376237.8:c.*678G>T | ENSP00000365412.4:n.*678G>T | |
ENST00000383329.7:c.1109G>T | ENSP00000372819.3:p.Cys370Phe | |
ENST00000466892.5:n.324G>T | ||
ENST00000470363.5:n.849G>T | ||
ENST00000487245.5:n.1450G>T | ||
NM_002117.5:c.1091G>T | NP_002108.4:p.Cys364Phe | |
NM_002117.6:c.1091G>T MANE Select | NP_002108.4:p.Cys364Phe |