HGVS | Genome Assembly |
---|---|
NC_000022.11:g.50220477T>C , CM000684.2:g.50220477T>C | GRCh38 |
NC_000022.10:g.50658906T>C , CM000684.1:g.50658906T>C | GRCh37 |
NC_000022.9:g.49001033T>C | NCBI36 |
NG_032160.1:g.29495A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248846.10:c.3882A>G MANE Select | ENSP00000248846.5:p.Gln1294= | |
ENST00000248846.9:c.3882A>G | ENSP00000248846.5:p.Gln1294= | |
ENST00000439308.6:c.3882A>G | ENSP00000397387.2:p.Gln1294= | |
ENST00000491449.5:n.2189A>G | ||
ENST00000498611.5:n.3618-462A>G | ||
NM_020461.3:c.3882A>G | NP_065194.2:p.Gln1294= | |
XR_938347.1:n.4447A>G | ||
XR_938348.1:n.3050-462A>G | ||
XR_001755343.2:n.4451A>G | ||
XR_001755344.2:n.4451A>G | ||
XR_002958720.1:n.3054-462A>G | ||
XR_938347.2:n.4451A>G | ||
NM_020461.4:c.3882A>G MANE Select | NP_065194.3:p.Gln1294= |