HGVS | Genome Assembly |
---|---|
NC_000008.11:g.38145645G= , CM000670.2:g.38145645G= | GRCh38 |
NC_000008.10:g.38003163G= , CM000670.1:g.38003163G= | GRCh37 |
NC_000008.9:g.38122320G= | NCBI36 |
NG_011827.1:g.10438C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000276449.9:c.650+318C= MANE Select | ENSP00000276449.3:n.650+318C= | |
ENST00000276449.8:c.650+318C= | ENSP00000276449.3:n.650+318C= | |
ENST00000520114.1:n.1455C= | ||
ENST00000522050.1:c.586+318C= | ||
NM_000349.2:c.650+318C= | NP_000340.2:n.650+318C= | |
XM_006716392.1:c.650+318C= | XP_006716455.1:n.650+318C= | |
NM_000349.3:c.650+318C= MANE Select | NP_000340.2:n.650+318C= |