HGVS | Genome Assembly |
---|---|
NC_000022.11:g.50221081G= , CM000684.2:g.50221081G= | GRCh38 |
NC_000022.10:g.50659510G= , CM000684.1:g.50659510G= | GRCh37 |
NC_000022.9:g.49001637G= | NCBI36 |
NG_032160.1:g.28891C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248846.10:c.3278C= MANE Select | ENSP00000248846.5:p.Ser1093= | |
ENST00000248846.9:c.3278C= | ENSP00000248846.5:p.Ser1093= | |
ENST00000439308.6:c.3278C= | ENSP00000397387.2:p.Ser1093= | |
ENST00000491449.5:n.1585C= | ||
ENST00000498611.5:n.3617+194C= | ||
NM_020461.3:c.3278C= | NP_065194.2:p.Ser1093= | |
XR_938347.1:n.3843C= | ||
XR_938348.1:n.3049+947C= | ||
XR_001755343.2:n.3847C= | ||
XR_001755344.2:n.3847C= | ||
XR_002958720.1:n.3053+947C= | ||
XR_938347.2:n.3847C= | ||
NM_020461.4:c.3278C= MANE Select | NP_065194.3:p.Ser1093= |