HGVS | Genome Assembly |
---|---|
NC_000007.14:g.100647028G>T , CM000669.2:g.100647028G>T | GRCh38 |
NC_000007.13:g.100244651G>T , CM000669.1:g.100244651G>T | GRCh37 |
NC_000007.12:g.100082587G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000160382.10:c.879C>A MANE Select | ENSP00000160382.5:p.Asp293Glu | |
ENST00000160382.9:c.879C>A | ENSP00000160382.5:p.Asp293Glu | |
ENST00000487125.1:n.441C>A | ||
NM_016188.4:c.879C>A | NP_057272.1:p.Asp293Glu | |
XR_927476.1:n.986C>A | ||
NR_134539.1:n.986C>A | ||
NM_016188.5:c.879C>A MANE Select | NP_057272.1:p.Asp293Glu | |
NR_134539.2:n.973C>A |