HGVS | Genome Assembly |
---|---|
NC_000023.11:g.29917583G>T , CM000685.2:g.29917583G>T | GRCh38 |
NC_000023.10:g.29935700G>T , CM000685.1:g.29935700G>T | GRCh37 |
NC_000023.9:g.29845621G>T | NCBI36 |
NG_008292.1:g.1335020G>T | |
NG_008292.2:g.1335020G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378993.6:c.898G>T MANE Select | ENSP00000368278.1:p.Glu300Ter | |
ENST00000302196.5:c.121G>T | ENSP00000305200.5:p.Glu41Ter | |
ENST00000378993.5:c.898G>T | ENSP00000368278.1:p.Glu300Ter | |
NM_014271.3:c.898G>T | NP_055086.1:p.Glu300Ter | |
XM_005274441.1:c.898G>T | XP_005274498.1:p.Glu300Ter | |
XM_011545445.1:c.898G>T | XP_011543747.1:p.Glu300Ter | |
XM_017029240.1:c.898G>T | XP_016884729.1:p.Glu300Ter | |
XM_017029241.1:c.520G>T | XP_016884730.1:p.Glu174Ter | |
NM_014271.4:c.898G>T MANE Select | NP_055086.1:p.Glu300Ter |