HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128395189G>T , CM000667.2:g.128395189G>T | GRCh38 |
NC_000005.9:g.127730882G>T , CM000667.1:g.127730882G>T | GRCh37 |
NC_000005.8:g.127758781G>T | NCBI36 |
NG_008750.1:g.147854C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000703787.1:n.871C>A | ||
ENST00000262464.9:c.1164C>A MANE Select | ENSP00000262464.4:p.Cys388Ter | |
ENST00000262464.8:c.1164C>A | ENSP00000262464.4:p.Cys388Ter | |
ENST00000508053.5:c.1164C>A | ENSP00000424571.1:p.Cys388Ter | |
ENST00000508989.5:c.1065C>A | ENSP00000425596.1:p.Cys355Ter | |
ENST00000619499.4:c.1161C>A | ENSP00000482132.1:p.Cys387Ter | |
NM_001999.3:c.1164C>A | NP_001990.2:p.Cys388Ter | |
XM_017009228.2:c.1079-1821C>A | XP_016864717.1:n.1079-1821C>A | |
NM_001999.4:c.1164C>A MANE Select | NP_001990.2:p.Cys388Ter |