HGVS | Genome Assembly |
---|---|
NC_000022.11:g.50221218C>T , CM000684.2:g.50221218C>T | GRCh38 |
NC_000022.10:g.50659647C>T , CM000684.1:g.50659647C>T | GRCh37 |
NC_000022.9:g.49001774C>T | NCBI36 |
NG_032160.1:g.28754G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248846.10:c.3141G>A MANE Select | ENSP00000248846.5:p.Arg1047= | |
ENST00000248846.9:c.3141G>A | ENSP00000248846.5:p.Arg1047= | |
ENST00000439308.6:c.3141G>A | ENSP00000397387.2:p.Arg1047= | |
ENST00000491449.5:n.1448G>A | ||
ENST00000498611.5:n.3617+57G>A | ||
NM_020461.3:c.3141G>A | NP_065194.2:p.Arg1047= | |
XR_938347.1:n.3706G>A | ||
XR_938348.1:n.3049+810G>A | ||
XR_001755343.2:n.3710G>A | ||
XR_001755344.2:n.3710G>A | ||
XR_002958720.1:n.3053+810G>A | ||
XR_938347.2:n.3710G>A | ||
NM_020461.4:c.3141G>A MANE Select | NP_065194.3:p.Arg1047= |