HGVS | Genome Assembly |
---|---|
NC_000016.10:g.73679803C= , CM000678.2:g.73679803C= | GRCh38 |
NC_000016.9:g.73713702C= , CM000678.1:g.73713702C= | GRCh37 |
NC_000016.8:g.72271203C= | NCBI36 |
NG_013211.2:g.217129G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000641018.1:n.538G= | ||
ENST00000641206.2:c.-1547+377G= | ENSP00000493252.1:n.-1547+377G= | |
ENST00000642085.1:n.163+377G= | ||
XR_933730.1:n.355+377G= | ||
XM_024450275.1:c.-494+377G= | XP_024306043.1:n.-494+377G= | |
NM_001386735.1:c.-1064+377G= | NP_001373664.1:n.-1064+377G= |