HGVS | Genome Assembly |
---|---|
NC_000011.10:g.102789918A>T , CM000673.2:g.102789918A>T | GRCh38 |
NC_000011.9:g.102660649A>T , CM000673.1:g.102660649A>T | GRCh37 |
NC_000011.8:g.102165859A>T | NCBI36 |
NG_011740.1:g.13318T>A | |
NG_011740.2:g.13318T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000680179.1:n.1082T>A (MMP1) | ||
ENST00000681445.1:n.1078T>A (MMP1) | ||
ENST00000681643.1:n.1104T>A (MMP1) | ||
ENST00000371455.7:n.325-8106A>T (WTAPP1) | ||
ENST00000525739.6:n.390-3227A>T (WTAPP1) | ||
ENST00000544704.1:n.344+5854A>T (WTAPP1) | ||
NM_001145938.1:c.*494T>A (MMP1) | NP_001139410.1:n.*494T>A | |
NM_002421.3:c.*494T>A (MMP1) | NP_002412.1:n.*494T>A | |
NR_038390.1:n.390-3227A>T (WTAPP1) |