HGVS | Genome Assembly |
---|---|
NC_000015.10:g.72376095G= , CM000677.2:g.72376095G= | GRCh38 |
NC_000015.9:g.72668436G= , CM000677.1:g.72668436G= | GRCh37 |
NC_000015.8:g.70455490G= | NCBI36 |
NG_009017.1:g.5085C= | |
NG_009017.2:g.5085C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000268097.9:c.-123C= | ENSP00000268097.5:n.-123C= | |
ENST00000569509.5:n.146+180C= | ||
NM_000520.4:c.-123C= | NP_000511.2:n.-123C= | |
NM_000520.5:c.-123C= | NP_000511.2:n.-123C= | |
NM_001318825.1:c.-123C= | NP_001305754.1:n.-123C= | |
NR_134869.1:n.379C= |