HGVS | Genome Assembly |
---|---|
NC_000023.11:g.153736171C= , CM000685.2:g.153736171C= | GRCh38 |
NC_000023.10:g.153001625C= , CM000685.1:g.153001625C= | GRCh37 |
NC_000023.9:g.152654819C= | NCBI36 |
NG_009022.2:g.16304C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000218104.6:c.1141C= MANE Select | ENSP00000218104.3:p.Arg381= | |
ENST00000218104.5:c.1141C= | ENSP00000218104.3:p.Arg381= | |
ENST00000443684.2:n.144C= | ||
NM_000033.3:c.1141C= | NP_000024.2:p.Arg381= | |
XR_938507.1:n.1557C= | ||
XR_938507.2:n.1557C= | ||
NM_000033.4:c.1141C= MANE Select | NP_000024.2:p.Arg381= |