HGVS | Genome Assembly |
---|---|
NC_000022.11:g.50220570C>A , CM000684.2:g.50220570C>A | GRCh38 |
NC_000022.10:g.50658999C>A , CM000684.1:g.50658999C>A | GRCh37 |
NC_000022.9:g.49001126C>A | NCBI36 |
NG_032160.1:g.29402G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248846.10:c.3789G>T MANE Select | ENSP00000248846.5:p.Arg1263= | |
ENST00000248846.9:c.3789G>T | ENSP00000248846.5:p.Arg1263= | |
ENST00000439308.6:c.3789G>T | ENSP00000397387.2:p.Arg1263= | |
ENST00000491449.5:n.2096G>T | ||
ENST00000498611.5:n.3618-555G>T | ||
NM_020461.3:c.3789G>T | NP_065194.2:p.Arg1263= | |
XR_938347.1:n.4354G>T | ||
XR_938348.1:n.3050-555G>T | ||
XR_001755343.2:n.4358G>T | ||
XR_001755344.2:n.4358G>T | ||
XR_002958720.1:n.3054-555G>T | ||
XR_938347.2:n.4358G>T | ||
NM_020461.4:c.3789G>T MANE Select | NP_065194.3:p.Arg1263= |