HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41624263C= , CM000679.2:g.41624263C= | GRCh38 |
NC_000017.10:g.39780515C= , CM000679.1:g.39780515C= | GRCh37 |
NC_000017.9:g.37034041C= | NCBI36 |
NG_008625.1:g.5368G= | |
NG_009090.2:g.167450G= , LRG_401:g.167450G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311208.13:c.247G= MANE Select | ENSP00000308452.8:p.Gly83= | |
ENST00000311208.12:c.247G= | ENSP00000308452.8:p.Gly83= | |
ENST00000463128.5:c.-312-57G= | ENSP00000468672.1:n.-312-57G= | |
ENST00000491673.1:n.313G= | ||
ENST00000493253.5:n.34G= | ||
ENST00000540235.5:c.42G= | ENSP00000441751.2:p.Glu14= | |
ENST00000577817.3:c.202G= | ENSP00000467418.1:p.Gly68= | |
NM_000422.2:c.247G= | NP_000413.1:p.Gly83= | |
NM_000422.3:c.247G= MANE Select | NP_000413.1:p.Gly83= |