HGVS | Genome Assembly |
---|---|
NC_000022.11:g.50220985G= , CM000684.2:g.50220985G= | GRCh38 |
NC_000022.10:g.50659414G= , CM000684.1:g.50659414G= | GRCh37 |
NC_000022.9:g.49001541G= | NCBI36 |
NG_032160.1:g.28987C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248846.10:c.3374C= MANE Select | ENSP00000248846.5:p.Ala1125= | |
ENST00000248846.9:c.3374C= | ENSP00000248846.5:p.Ala1125= | |
ENST00000439308.6:c.3374C= | ENSP00000397387.2:p.Ala1125= | |
ENST00000491449.5:n.1681C= | ||
ENST00000498611.5:n.3617+290C= | ||
NM_020461.3:c.3374C= | NP_065194.2:p.Ala1125= | |
XR_938347.1:n.3939C= | ||
XR_938348.1:n.3050-970C= | ||
XR_001755343.2:n.3943C= | ||
XR_001755344.2:n.3943C= | ||
XR_002958720.1:n.3054-970C= | ||
XR_938347.2:n.3943C= | ||
NM_020461.4:c.3374C= MANE Select | NP_065194.3:p.Ala1125= |