HGVS | Genome Assembly |
---|---|
NC_000014.9:g.91273407T>A , CM000676.2:g.91273407T>A | GRCh38 |
NC_000014.8:g.91739751T>A , CM000676.1:g.91739751T>A | GRCh37 |
NC_000014.7:g.90809504T>A | NCBI36 |
NG_033118.1:g.149438A>T | |
NG_033118.2:g.149438A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000389857.11:c.5305A>T MANE Select | ENSP00000374507.6:p.Arg1769Ter | |
ENST00000331194.8:c.877A>T | ENSP00000330332.8:p.Arg293Ter | |
ENST00000389857.10:c.5305A>T | ENSP00000374507.6:p.Arg1769Ter | |
ENST00000556726.5:c.1533A>T | ||
NM_001080414.3:c.5305A>T | NP_001073883.2:p.Arg1769Ter | |
XM_011536796.1:c.5197A>T | XP_011535098.1:p.Arg1733Ter | |
XM_011536796.2:c.5197A>T | XP_011535098.1:p.Arg1733Ter | |
XM_017021336.1:c.2386A>T | XP_016876825.1:p.Arg796Ter | |
NM_001080414.4:c.5305A>T MANE Select | NP_001073883.2:p.Arg1769Ter |