HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128395182C>A , CM000667.2:g.128395182C>A | GRCh38 |
NC_000005.9:g.127730875C>A , CM000667.1:g.127730875C>A | GRCh37 |
NC_000005.8:g.127758774C>A | NCBI36 |
NG_008750.1:g.147861G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000703787.1:n.878G>T | ||
ENST00000262464.9:c.1171G>T MANE Select | ENSP00000262464.4:p.Glu391Ter | |
ENST00000262464.8:c.1171G>T | ENSP00000262464.4:p.Glu391Ter | |
ENST00000508053.5:c.1171G>T | ENSP00000424571.1:p.Glu391Ter | |
ENST00000508989.5:c.1072G>T | ENSP00000425596.1:p.Glu358Ter | |
ENST00000619499.4:c.1168G>T | ENSP00000482132.1:p.Glu390Ter | |
NM_001999.3:c.1171G>T | NP_001990.2:p.Glu391Ter | |
XM_017009228.2:c.1079-1814G>T | XP_016864717.1:n.1079-1814G>T | |
NM_001999.4:c.1171G>T MANE Select | NP_001990.2:p.Glu391Ter |