HGVS | Genome Assembly |
---|---|
NC_000002.12:g.162267358G= , CM000664.2:g.162267358G= | GRCh38 |
NC_000002.11:g.163123868G= , CM000664.1:g.163123868G= | GRCh37 |
NC_000002.10:g.162832114G= | NCBI36 |
NG_011495.1:g.56172C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000697291.1:c.*2517C= | ENSP00000513228.1:n.*2517C= | |
ENST00000648433.1:c.2803C= | ENSP00000496816.1:p.His935= | |
ENST00000649426.1:n.681C= | ||
ENST00000649554.1:n.2530C= | ||
ENST00000649979.2:c.2920C= MANE Select | ENSP00000497271.1:p.His974= | |
ENST00000679938.1:c.2608C= | ENSP00000505518.1:p.His870= | |
ENST00000263642.2:c.2920C= | ENSP00000263642.2:p.His974= | |
NM_022168.3:c.2920C= | NP_071451.2:p.His974= | |
XM_011511628.1:c.2203C= | XP_011509930.1:p.His735= | |
NM_022168.4:c.2920C= MANE Select | NP_071451.2:p.His974= |