HGVS | Genome Assembly |
---|---|
NC_000010.11:g.85848540G= , CM000672.2:g.85848540G= | GRCh38 |
NC_000010.10:g.87608297G= , CM000672.1:g.87608297G= | GRCh37 |
NC_000010.9:g.87598277G= | NCBI36 |
NG_011875.1:g.522954C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000327946.12:c.1233+5956C= MANE Select | ENSP00000330148.7:n.1233+5956C= | |
ENST00000327946.11:c.1233+5956C= | ENSP00000330148.7:n.1233+5956C= | |
ENST00000464741.2:c.1233+5956C= | ENSP00000433064.1:n.1233+5956C= | |
ENST00000536331.5:c.453+5956C= | ENSP00000444455.2:n.453+5956C= | |
NM_017551.2:c.1233+5956C= | NP_060021.1:n.1233+5956C= | |
XM_011539720.1:c.1233+5956C= | XP_011538022.1:n.1233+5956C= | |
XM_011539720.2:c.1233+5956C= | XP_011538022.1:n.1233+5956C= | |
NM_017551.3:c.1233+5956C= MANE Select | NP_060021.1:n.1233+5956C= |