HGVS | Genome Assembly |
---|---|
NC_000022.11:g.50220759C= , CM000684.2:g.50220759C= | GRCh38 |
NC_000022.10:g.50659188C= , CM000684.1:g.50659188C= | GRCh37 |
NC_000022.9:g.49001315C= | NCBI36 |
NG_032160.1:g.29213G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248846.10:c.3600G= MANE Select | ENSP00000248846.5:p.Glu1200= | |
ENST00000248846.9:c.3600G= | ENSP00000248846.5:p.Glu1200= | |
ENST00000439308.6:c.3600G= | ENSP00000397387.2:p.Glu1200= | |
ENST00000491449.5:n.1907G= | ||
ENST00000498611.5:n.3617+516G= | ||
NM_020461.3:c.3600G= | NP_065194.2:p.Glu1200= | |
XR_938347.1:n.4165G= | ||
XR_938348.1:n.3050-744G= | ||
XR_001755343.2:n.4169G= | ||
XR_001755344.2:n.4169G= | ||
XR_002958720.1:n.3054-744G= | ||
XR_938347.2:n.4169G= | ||
NM_020461.4:c.3600G= MANE Select | NP_065194.3:p.Glu1200= |