HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128304482T= , CM000667.2:g.128304482T= | GRCh38 |
NC_000005.9:g.127640174T= , CM000667.1:g.127640174T= | GRCh37 |
NC_000005.8:g.127668073T= | NCBI36 |
NG_008750.1:g.238562A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703783.1:n.2584+475A= | ||
ENST00000703785.1:n.2503+475A= | ||
ENST00000262464.9:c.5800+475A= MANE Select | ENSP00000262464.4:n.5800+475A= | |
ENST00000262464.8:c.5800+475A= | ENSP00000262464.4:n.5800+475A= | |
ENST00000508053.5:c.5800+475A= | ENSP00000424571.1:n.5800+475A= | |
ENST00000619499.4:c.5797+475A= | ENSP00000482132.1:n.5797+475A= | |
NM_001999.3:c.5800+475A= | NP_001990.2:n.5800+475A= | |
XM_017009228.2:c.5647+475A= | XP_016864717.1:n.5647+475A= | |
NM_001999.4:c.5800+475A= MANE Select | NP_001990.2:n.5800+475A= |