HGVS | Genome Assembly |
---|---|
NC_000007.14:g.151010901G>C , CM000669.2:g.151010901G>C | GRCh38 |
NC_000007.13:g.150707989G>C , CM000669.1:g.150707989G>C | GRCh37 |
NC_000007.12:g.150338922G>C | NCBI36 |
NG_011992.1:g.24843G>C | |
NG_030317.1:g.18599C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297494.8:c.2899G>C MANE Select | ENSP00000297494.3:p.Gly967Arg | |
ENST00000297494.7:c.2899G>C | ENSP00000297494.3:p.Gly967Arg | |
ENST00000461406.5:c.2281G>C | ENSP00000417143.1:p.Gly761Arg | |
ENST00000468293.5:n.382G>C | ||
ENST00000475017.1:c.780G>C | ||
ENST00000477227.1:n.278G>C | ||
NM_000603.4:c.2899G>C | NP_000594.2:p.Gly967Arg | |
NM_000603.5:c.2899G>C MANE Select | NP_000594.2:p.Gly967Arg |