HGVS | Genome Assembly |
---|---|
NC_000002.12:g.75565050G>A , CM000664.2:g.75565050G>A | GRCh38 |
NC_000002.11:g.75792176G>A , CM000664.1:g.75792176G>A | GRCh37 |
NC_000002.10:g.75645684G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000233712.5:c.-192+4426C>T | ENSP00000233712.1:n.-192+4426C>T | |
ENST00000486696.1:n.223+4426C>T | ||
NM_032181.2:c.-192+4426C>T | NP_115557.1:n.-192+4426C>T | |
NM_032181.3:c.-192+4426C>T | NP_115557.1:n.-192+4426C>T |