HGVS | Genome Assembly |
---|---|
NC_000020.11:g.6096903A= , CM000682.2:g.6096903A= | GRCh38 |
NC_000020.10:g.6077550A= , CM000682.1:g.6077550A= | GRCh37 |
NC_000020.9:g.6025550A= | NCBI36 |
NG_016213.1:g.31642T= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000699095.1:c.1088T= | ENSP00000514127.1:p.Leu363= | |
ENST00000699096.1:n.1550T= | ||
ENST00000699097.1:n.258T= | ||
ENST00000217289.9:c.1088T= MANE Select | ENSP00000217289.4:p.Leu363= | |
ENST00000217289.8:c.1088T= | ENSP00000217289.4:p.Leu363= | |
ENST00000536936.1:c.317T= | ENSP00000441063.1:p.Leu106= | |
NM_017671.4:c.1088T= | NP_060141.3:p.Leu363= | |
XM_024451935.1:c.1088T= | XP_024307703.1:p.Leu363= | |
NM_017671.5:c.1088T= MANE Select | NP_060141.3:p.Leu363= |