HGVS | Genome Assembly |
---|---|
NC_000017.11:g.49991825T>G , CM000679.2:g.49991825T>G | GRCh38 |
NC_000017.10:g.48069189T>G , CM000679.1:g.48069189T>G | GRCh37 |
NC_000017.9:g.45424188T>G | NCBI36 |
NG_023063.1:g.8400A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000434704.2:c.556A>C MANE Select | ENSP00000389870.2:p.Lys186Gln | |
ENST00000512495.2:c.196A>C | ENSP00000449976.1:p.Lys66Gln | |
NM_005220.2:c.556A>C | NP_005211.1:p.Lys186Gln | |
XM_011524458.1:c.516+1575A>C | XP_011522760.1:n.516+1575A>C | |
NM_005220.3:c.556A>C MANE Select | NP_005211.1:p.Lys186Gln |