HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128395194G>A , CM000667.2:g.128395194G>A | GRCh38 |
NC_000005.9:g.127730887G>A , CM000667.1:g.127730887G>A | GRCh37 |
NC_000005.8:g.127758786G>A | NCBI36 |
NG_008750.1:g.147849C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000703787.1:n.866C>T | ||
ENST00000262464.9:c.1159C>T MANE Select | ENSP00000262464.4:p.Gln387Ter | |
ENST00000262464.8:c.1159C>T | ENSP00000262464.4:p.Gln387Ter | |
ENST00000508053.5:c.1159C>T | ENSP00000424571.1:p.Gln387Ter | |
ENST00000508989.5:c.1060C>T | ENSP00000425596.1:p.Gln354Ter | |
ENST00000619499.4:c.1156C>T | ENSP00000482132.1:p.Gln386Ter | |
NM_001999.3:c.1159C>T | NP_001990.2:p.Gln387Ter | |
XM_017009228.2:c.1079-1826C>T | XP_016864717.1:n.1079-1826C>T | |
NM_001999.4:c.1159C>T MANE Select | NP_001990.2:p.Gln387Ter |