HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31270301C= , CM000668.2:g.31270301C= | GRCh38 |
NC_000006.11:g.31238078C= , CM000668.1:g.31238078C= | GRCh37 |
NC_000006.10:g.31346057C= | NCBI36 |
NG_029422.2:g.6831G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.804G= MANE Select | ENSP00000365402.5:p.Trp268= | |
ENST00000376228.9:c.804G= | ENSP00000365402.5:p.Trp268= | |
ENST00000376237.8:c.*391G= | ENSP00000365412.4:n.*391G= | |
ENST00000383329.7:c.804G= | ENSP00000372819.3:p.Trp268= | |
ENST00000415537.1:c.695G= | ||
ENST00000470363.5:n.122G= | ||
ENST00000487245.5:n.1163G= | ||
ENST00000495835.1:n.993G= | ||
NM_002117.5:c.804G= | NP_002108.4:p.Trp268= | |
NM_002117.6:c.804G= MANE Select | NP_002108.4:p.Trp268= |