HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7454463T>C , CM000679.2:g.7454463T>C | GRCh38 |
NC_000017.10:g.7357782T>C , CM000679.1:g.7357782T>C | GRCh37 |
NC_000017.9:g.7298506T>C | NCBI36 |
NG_008026.1:g.14377T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306071.7:c.987T>C MANE Select | ENSP00000304290.2:p.Val329= | |
ENST00000306071.6:c.987T>C | ENSP00000304290.2:p.Val329= | |
ENST00000536404.6:c.771T>C | ENSP00000439209.2:p.Val257= | |
ENST00000570557.5:c.650T>C | ||
ENST00000573209.1:n.1931T>C | ||
ENST00000576360.1:c.624T>C | ENSP00000459092.1:p.Val208= | |
NM_000747.2:c.987T>C | NP_000738.2:p.Val329= | |
NM_000747.3:c.987T>C MANE Select | NP_000738.2:p.Val329= |