HGVS | Genome Assembly |
---|---|
NC_000001.11:g.42927757C= , CM000663.2:g.42927757C= | GRCh38 |
NC_000001.10:g.43393428C= , CM000663.1:g.43393428C= | GRCh37 |
NC_000001.9:g.43166015C= | NCBI36 |
NG_008232.1:g.36420G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000426263.10:c.1126G= MANE Select | ENSP00000416293.2:p.Val376= | |
ENST00000674545.1:n.1743G= | ||
ENST00000674765.1:c.1030-900G= | ENSP00000501811.1:n.1030-900G= | |
ENST00000675112.1:n.1427G= | ||
ENST00000676254.1:n.1575G= | ||
ENST00000426263.7:c.1126G= | ENSP00000416293.2:p.Val376= | |
ENST00000475162.3:c.416-779G= | ||
ENST00000630287.2:c.*441G= | ENSP00000486694.1:n.*441G= | |
NM_006516.2:c.1126G= | NP_006507.2:p.Val376= | |
NM_006516.3:c.1126G= | NP_006507.2:p.Val376= | |
NM_006516.4:c.1126G= MANE Select | NP_006507.2:p.Val376= |