HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128395193T= , CM000667.2:g.128395193T= | GRCh38 |
NC_000005.9:g.127730886T= , CM000667.1:g.127730886T= | GRCh37 |
NC_000005.8:g.127758785T= | NCBI36 |
NG_008750.1:g.147850A= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000703787.1:n.867A= | ||
ENST00000262464.9:c.1160A= MANE Select | ENSP00000262464.4:p.Gln387= | |
ENST00000262464.8:c.1160A= | ENSP00000262464.4:p.Gln387= | |
ENST00000508053.5:c.1160A= | ENSP00000424571.1:p.Gln387= | |
ENST00000508989.5:c.1061A= | ENSP00000425596.1:p.Gln354= | |
ENST00000619499.4:c.1157A= | ENSP00000482132.1:p.Gln386= | |
NM_001999.3:c.1160A= | NP_001990.2:p.Gln387= | |
XM_017009228.2:c.1079-1825A= | XP_016864717.1:n.1079-1825A= | |
NM_001999.4:c.1160A= MANE Select | NP_001990.2:p.Gln387= |