HGVS | Genome Assembly |
---|---|
NC_000002.12:g.86040458T>G , CM000664.2:g.86040458T>G | GRCh38 |
NC_000002.11:g.86267581T>G , CM000664.1:g.86267581T>G | GRCh37 |
NC_000002.10:g.86121092T>G | NCBI36 |
NG_050742.2:g.70698A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263857.11:c.3674A>C MANE Select | ENSP00000263857.6:p.Gln1225Pro | |
ENST00000263857.10:c.3674A>C | ENSP00000263857.6:p.Gln1225Pro | |
ENST00000409681.1:c.3674A>C | ENSP00000386300.1:p.Gln1225Pro | |
ENST00000462078.1:n.62A>C | ||
NM_015425.3:c.3674A>C | NP_056240.2:p.Gln1225Pro | |
XM_006711983.2:c.3350A>C | XP_006712046.1:p.Gln1117Pro | |
NM_015425.5:c.3674A>C | NP_056240.2:p.Gln1225Pro | |
NM_015425.6:c.3674A>C MANE Select | NP_056240.2:p.Gln1225Pro |