HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31269474G= , CM000668.2:g.31269474G= | GRCh38 |
NC_000006.11:g.31237251G= , CM000668.1:g.31237251G= | GRCh37 |
NC_000006.10:g.31345230G= | NCBI36 |
NG_029422.2:g.7658C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.1048+19C= MANE Select | ENSP00000365402.5:n.1048+19C= | |
ENST00000376228.9:c.1048+19C= | ENSP00000365402.5:n.1048+19C= | |
ENST00000376237.8:c.*635+19C= | ENSP00000365412.4:n.*635+19C= | |
ENST00000383329.7:c.1066+19C= | ENSP00000372819.3:n.1066+19C= | |
ENST00000466892.5:n.193C= | ||
ENST00000470363.5:n.806+19C= | ||
ENST00000487245.5:n.1407+19C= | ||
NM_002117.5:c.1048+19C= | NP_002108.4:n.1048+19C= | |
NM_002117.6:c.1048+19C= MANE Select | NP_002108.4:n.1048+19C= |