HGVS | Genome Assembly |
---|---|
NC_000011.10:g.47343490A= , CM000673.2:g.47343490A= | GRCh38 |
NC_000011.9:g.47365041A= , CM000673.1:g.47365041A= | GRCh37 |
NC_000011.8:g.47321617A= | NCBI36 |
NG_007667.1:g.14213T= , LRG_386:g.14213T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000545968.6:c.1223+2T= MANE Select | ENSP00000442795.1:n.1223+2T= | |
ENST00000256993.8:c.1223+2T= | ENSP00000256993.5:n.1223+2T= | |
ENST00000399249.6:c.1223+2T= | ENSP00000382193.2:n.1223+2T= | |
ENST00000544791.1:c.1223+2T= | ENSP00000444259.1:n.1223+2T= | |
ENST00000545968.5:c.1223+2T= | ENSP00000442795.1:n.1223+2T= | |
NM_000256.3:c.1223+2T= , LRG_386t1:c.1223+2T= MANE Select | NP_000247.2:n.1223+2T= | |
XM_011520117.1:c.1205+2T= | XP_011518419.1:n.1205+2T= | |
XM_011520118.1:c.1223+2T= | XP_011518420.1:n.1223+2T= |