HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7454462T>G , CM000679.2:g.7454462T>G | GRCh38 |
NC_000017.10:g.7357781T>G , CM000679.1:g.7357781T>G | GRCh37 |
NC_000017.9:g.7298505T>G | NCBI36 |
NG_008026.1:g.14376T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306071.7:c.986T>G MANE Select | ENSP00000304290.2:p.Val329Gly | |
ENST00000306071.6:c.986T>G | ENSP00000304290.2:p.Val329Gly | |
ENST00000536404.6:c.770T>G | ENSP00000439209.2:p.Val257Gly | |
ENST00000570557.5:c.649T>G | ||
ENST00000573209.1:n.1930T>G | ||
ENST00000576360.1:c.623T>G | ENSP00000459092.1:p.Val208Gly | |
NM_000747.2:c.986T>G | NP_000738.2:p.Val329Gly | |
NM_000747.3:c.986T>G MANE Select | NP_000738.2:p.Val329Gly |