HGVS | Genome Assembly |
---|---|
NC_000015.10:g.73329566G= , CM000677.2:g.73329566G= | GRCh38 |
NC_000015.9:g.73621907G= , CM000677.1:g.73621907G= | GRCh37 |
NC_000015.8:g.71408960G= | NCBI36 |
NG_009063.1:g.44699C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261917.4:c.1590+7C= MANE Select | ENSP00000261917.3:n.1590+7C= | |
ENST00000261917.3:c.1590+7C= | ENSP00000261917.3:n.1590+7C= | |
NM_005477.2:c.1590+7C= | NP_005468.1:n.1590+7C= | |
XM_011521148.1:c.372+7C= | XP_011519450.1:n.372+7C= | |
XM_011521148.2:c.372+7C= | XP_011519450.1:n.372+7C= | |
NM_005477.3:c.1590+7C= MANE Select | NP_005468.1:n.1590+7C= |