HGVS | Genome Assembly |
---|---|
NC_000022.11:g.50221311C>A , CM000684.2:g.50221311C>A | GRCh38 |
NC_000022.10:g.50659740C>A , CM000684.1:g.50659740C>A | GRCh37 |
NC_000022.9:g.49001867C>A | NCBI36 |
NG_032160.1:g.28661G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248846.10:c.3048G>T MANE Select | ENSP00000248846.5:p.Glu1016Asp | |
ENST00000248846.9:c.3048G>T | ENSP00000248846.5:p.Glu1016Asp | |
ENST00000439308.6:c.3048G>T | ENSP00000397387.2:p.Glu1016Asp | |
ENST00000491449.5:n.1355G>T | ||
ENST00000498611.5:n.3581G>T | ||
NM_020461.3:c.3048G>T | NP_065194.2:p.Glu1016Asp | |
XR_938347.1:n.3613G>T | ||
XR_938348.1:n.3049+717G>T | ||
XR_001755343.2:n.3617G>T | ||
XR_001755344.2:n.3617G>T | ||
XR_002958720.1:n.3053+717G>T | ||
XR_938347.2:n.3617G>T | ||
NM_020461.4:c.3048G>T MANE Select | NP_065194.3:p.Glu1016Asp |