HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128300841C>A , CM000667.2:g.128300841C>A | GRCh38 |
NC_000005.9:g.127636533C>A , CM000667.1:g.127636533C>A | GRCh37 |
NC_000005.8:g.127664432C>A | NCBI36 |
NG_008750.1:g.242203G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703783.1:n.2926G>T | ||
ENST00000703785.1:n.2845G>T | ||
ENST00000262464.9:c.6142G>T MANE Select | ENSP00000262464.4:p.Glu2048Ter | |
ENST00000262464.8:c.6142G>T | ENSP00000262464.4:p.Glu2048Ter | |
ENST00000508053.5:c.6142G>T | ENSP00000424571.1:p.Glu2048Ter | |
ENST00000619499.4:c.6139G>T | ENSP00000482132.1:p.Glu2047Ter | |
NM_001999.3:c.6142G>T | NP_001990.2:p.Glu2048Ter | |
XM_017009228.2:c.5989G>T | XP_016864717.1:p.Glu1997Ter | |
NM_001999.4:c.6142G>T MANE Select | NP_001990.2:p.Glu2048Ter |