HGVS | Genome Assembly |
---|---|
NC_000004.12:g.67931992C= , CM000666.2:g.67931992C= | GRCh38 |
NC_000004.11:g.68797710C= , CM000666.1:g.68797710C= | GRCh37 |
NC_000004.10:g.68480305C= | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000508048.6:c.320+1G= MANE Select | ENSP00000426911.2:n.320+1G= | |
ENST00000334830.11:c.329+1G= | ENSP00000334611.7:n.329+1G= | |
ENST00000396188.3:c.320+1G= | ENSP00000379491.3:n.320+1G= | |
ENST00000508048.5:c.320+1G= | ENSP00000426911.2:n.320+1G= | |
ENST00000513536.5:c.260+1G= | ENSP00000427621.1:n.260+1G= | |
NM_001114387.1:c.320+1G= | NP_001107859.1:n.320+1G= | |
NM_182606.3:c.329+1G= | NP_872412.3:n.329+1G= | |
NM_001114387.2:c.320+1G= MANE Select | NP_001107859.1:n.320+1G= | |
NM_182606.4:c.329+1G= | NP_872412.3:n.329+1G= |