HGVS | Genome Assembly |
---|---|
NC_000015.10:g.58079484G>A , CM000677.2:g.58079484G>A | GRCh38 |
NC_000015.9:g.58371682G>A , CM000677.1:g.58371682G>A | GRCh37 |
NC_000015.8:g.56158974G>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000557967.5:c.-172+58963C>T | ENSP00000454028.1:n.-172+58963C>T | |
ENST00000558073.5:n.415+27835C>T | ||
ENST00000558231.5:c.31-65203C>T | ENSP00000453600.1:n.31-65203C>T | |
ENST00000558239.5:c.-171-65203C>T | ENSP00000453292.1:n.-171-65203C>T | |
ENST00000559297.5:n.424+27835C>T | ||
ENST00000560122.5:n.541+27835C>T |