HGVS | Genome Assembly |
---|---|
NC_000001.11:g.42927671A= , CM000663.2:g.42927671A= | GRCh38 |
NC_000001.10:g.43393342A= , CM000663.1:g.43393342A= | GRCh37 |
NC_000001.9:g.43165929A= | NCBI36 |
NG_008232.1:g.36506T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000426263.10:c.1212T= MANE Select | ENSP00000416293.2:p.Ile404= | |
ENST00000674545.1:n.1829T= | ||
ENST00000674765.1:c.1030-814T= | ENSP00000501811.1:n.1030-814T= | |
ENST00000675112.1:n.1513T= | ||
ENST00000676254.1:n.1661T= | ||
ENST00000426263.7:c.1212T= | ENSP00000416293.2:p.Ile404= | |
ENST00000475162.3:c.416-693T= | ||
ENST00000630287.2:c.*527T= | ENSP00000486694.1:n.*527T= | |
NM_006516.2:c.1212T= | NP_006507.2:p.Ile404= | |
NM_006516.3:c.1212T= | NP_006507.2:p.Ile404= | |
NM_006516.4:c.1212T= MANE Select | NP_006507.2:p.Ile404= |