HGVS | Genome Assembly |
---|---|
NC_000022.11:g.50221312T>A , CM000684.2:g.50221312T>A | GRCh38 |
NC_000022.10:g.50659741T>A , CM000684.1:g.50659741T>A | GRCh37 |
NC_000022.9:g.49001868T>A | NCBI36 |
NG_032160.1:g.28660A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248846.10:c.3047A>T MANE Select | ENSP00000248846.5:p.Glu1016Val | |
ENST00000248846.9:c.3047A>T | ENSP00000248846.5:p.Glu1016Val | |
ENST00000439308.6:c.3047A>T | ENSP00000397387.2:p.Glu1016Val | |
ENST00000491449.5:n.1354A>T | ||
ENST00000498611.5:n.3580A>T | ||
NM_020461.3:c.3047A>T | NP_065194.2:p.Glu1016Val | |
XR_938347.1:n.3612A>T | ||
XR_938348.1:n.3049+716A>T | ||
XR_001755343.2:n.3616A>T | ||
XR_001755344.2:n.3616A>T | ||
XR_002958720.1:n.3053+716A>T | ||
XR_938347.2:n.3616A>T | ||
NM_020461.4:c.3047A>T MANE Select | NP_065194.3:p.Glu1016Val |