HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7455884C>G , CM000679.2:g.7455884C>G | GRCh38 |
NC_000017.10:g.7359203C>G , CM000679.1:g.7359203C>G | GRCh37 |
NC_000017.9:g.7299927C>G | NCBI36 |
NG_008026.1:g.15798C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306071.7:c.1308C>G MANE Select | ENSP00000304290.2:p.Val436= | |
ENST00000306071.6:c.1308C>G | ENSP00000304290.2:p.Val436= | |
ENST00000536404.6:c.1092C>G | ENSP00000439209.2:p.Val364= | |
ENST00000575379.1:c.-85C>G | ENSP00000461751.1:n.-85C>G | |
ENST00000576360.1:c.945C>G | ENSP00000459092.1:p.Val315= | |
NM_000747.2:c.1308C>G | NP_000738.2:p.Val436= | |
NM_000747.3:c.1308C>G MANE Select | NP_000738.2:p.Val436= |