HGVS | Genome Assembly |
---|---|
NC_000013.11:g.27924295C>G , CM000675.2:g.27924295C>G | GRCh38 |
NC_000013.10:g.28498432C>G , CM000675.1:g.28498432C>G | GRCh37 |
NC_000013.9:g.27396432C>G | NCBI36 |
NG_008183.1:g.9265C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381033.5:c.446C>G MANE Select | ENSP00000370421.4:p.Thr149Arg | |
ENST00000381033.4:c.446C>G | ENSP00000370421.4:p.Thr149Arg | |
NM_000209.3:c.446C>G | NP_000200.1:p.Thr149Arg | |
XR_941578.1:n.3573C>G | ||
XR_941579.1:n.2172C>G | ||
XR_941580.1:n.1088C>G | ||
XR_941578.2:n.3585C>G | ||
XR_941580.2:n.1100C>G | ||
NM_000209.4:c.446C>G MANE Select | NP_000200.1:p.Thr149Arg |