HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154992939C>A , CM000685.2:g.154992939C>A | GRCh38 |
NC_000023.10:g.154221214C>A , CM000685.1:g.154221214C>A | GRCh37 |
NC_000023.9:g.153874408C>A | NCBI36 |
NG_011403.1:g.34785G>T | |
NG_011403.2:g.34785G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.598G>T MANE Select | ENSP00000353393.4:p.Glu200Ter | |
ENST00000647125.1:c.*384G>T | ENSP00000496062.1:n.*384G>T | |
ENST00000360256.8:c.598G>T | ENSP00000353393.4:p.Glu200Ter | |
ENST00000423959.5:c.493G>T | ENSP00000409446.1:p.Glu165Ter | |
NM_000132.3:c.598G>T | NP_000123.1:p.Glu200Ter | |
XM_011531126.1:c.493G>T | XP_011529428.1:p.Glu165Ter | |
NM_000132.4:c.598G>T MANE Select | NP_000123.1:p.Glu200Ter |