HGVS | Genome Assembly |
---|---|
NC_000011.10:g.102798231A>G , CM000673.2:g.102798231A>G | GRCh38 |
NC_000011.9:g.102668962A>G , CM000673.1:g.102668962A>G | GRCh37 |
NC_000011.8:g.102174172A>G | NCBI36 |
NG_011740.1:g.5005T>C | |
NG_011740.2:g.5005T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371455.7:n.423+109A>G (WTAPP1) | ||
ENST00000525739.6:n.682+109A>G (WTAPP1) | ||
ENST00000544704.1:n.443+109A>G (WTAPP1) | ||
NM_001145938.1:c.-185T>C (MMP1) | NP_001139410.1:n.-185T>C | |
NM_002421.3:c.-139T>C (MMP1) | NP_002412.1:n.-139T>C | |
NR_038390.1:n.682+109A>G (WTAPP1) |