HGVS | Genome Assembly |
---|---|
NC_000022.11:g.50220979G= , CM000684.2:g.50220979G= | GRCh38 |
NC_000022.10:g.50659408G= , CM000684.1:g.50659408G= | GRCh37 |
NC_000022.9:g.49001535G= | NCBI36 |
NG_032160.1:g.28993C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248846.10:c.3380C= MANE Select | ENSP00000248846.5:p.Thr1127= | |
ENST00000248846.9:c.3380C= | ENSP00000248846.5:p.Thr1127= | |
ENST00000439308.6:c.3380C= | ENSP00000397387.2:p.Thr1127= | |
ENST00000491449.5:n.1687C= | ||
ENST00000498611.5:n.3617+296C= | ||
NM_020461.3:c.3380C= | NP_065194.2:p.Thr1127= | |
XR_938347.1:n.3945C= | ||
XR_938348.1:n.3050-964C= | ||
XR_001755343.2:n.3949C= | ||
XR_001755344.2:n.3949C= | ||
XR_002958720.1:n.3054-964C= | ||
XR_938347.2:n.3949C= | ||
NM_020461.4:c.3380C= MANE Select | NP_065194.3:p.Thr1127= |