HGVS | Genome Assembly |
---|---|
NC_000002.12:g.75564981C>A , CM000664.2:g.75564981C>A | GRCh38 |
NC_000002.11:g.75792107C>A , CM000664.1:g.75792107C>A | GRCh37 |
NC_000002.10:g.75645615C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000233712.5:c.-192+4495G>T | ENSP00000233712.1:n.-192+4495G>T | |
ENST00000486696.1:n.223+4495G>T | ||
NM_032181.2:c.-192+4495G>T | NP_115557.1:n.-192+4495G>T | |
NM_032181.3:c.-192+4495G>T | NP_115557.1:n.-192+4495G>T |