HGVS | Genome Assembly |
---|---|
NC_000023.11:g.153740600G>T , CM000685.2:g.153740600G>T | GRCh38 |
NC_000023.10:g.153006054G>T , CM000685.1:g.153006054G>T | GRCh37 |
NC_000023.9:g.152659248G>T | NCBI36 |
NG_009022.2:g.20733G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000218104.6:c.1661G>T MANE Select | ENSP00000218104.3:p.Arg554Leu | |
ENST00000218104.5:c.1661G>T | ENSP00000218104.3:p.Arg554Leu | |
ENST00000443684.2:n.664G>T | ||
NM_000033.3:c.1661G>T | NP_000024.2:p.Arg554Leu | |
XR_938507.1:n.2133G>T | ||
XR_938507.2:n.2133G>T | ||
NM_000033.4:c.1661G>T MANE Select | NP_000024.2:p.Arg554Leu |