HGVS | Genome Assembly |
---|---|
NC_000011.10:g.62917758C>A , CM000673.2:g.62917758C>A | GRCh38 |
NC_000011.9:g.62685230C>A , CM000673.1:g.62685230C>A | GRCh37 |
NC_000011.8:g.62441806C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000306960.4:c.-79+3460G>T MANE Select | ENSP00000306490.3:n.-79+3460G>T | |
ENST00000306960.3:c.-79+3460G>T | ENSP00000306490.3:n.-79+3460G>T | |
ENST00000543973.1:c.-79+2915G>T | ENSP00000441188.1:n.-79+2915G>T | |
NM_000738.2:c.-79+3460G>T | NP_000729.2:n.-79+3460G>T | |
XM_011544742.1:c.-79+4080G>T | XP_011543044.1:n.-79+4080G>T | |
XM_011544742.2:c.-79+4080G>T | XP_011543044.1:n.-79+4080G>T | |
XR_002957251.1:n.394-168C>A | ||
NM_000738.3:c.-79+3460G>T MANE Select | NP_000729.2:n.-79+3460G>T |