HGVS | Genome Assembly |
---|---|
NC_000002.12:g.218882256G>A , CM000664.2:g.218882256G>A | GRCh38 |
NC_000002.11:g.219746978G>A , CM000664.1:g.219746978G>A | GRCh37 |
NC_000002.10:g.219455222G>A | NCBI36 |
NG_012179.1:g.6724G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258411.8:c.209G>A MANE Select | ENSP00000258411.3:p.Arg70Gln | |
ENST00000258411.7:c.209G>A | ENSP00000258411.3:p.Arg70Gln | |
ENST00000458582.1:c.96G>A | ||
NM_025216.2:c.209G>A | NP_079492.2:p.Arg70Gln | |
XM_011511928.1:c.158G>A | XP_011510230.1:p.Arg53Gln | |
XM_011511929.1:c.113G>A | XP_011510231.1:p.Arg38Gln | |
XM_011511930.1:c.209G>A | XP_011510232.1:p.Arg70Gln | |
XM_011511929.2:c.113G>A | XP_011510231.1:p.Arg38Gln | |
NM_025216.3:c.209G>A MANE Select | NP_079492.2:p.Arg70Gln |