HGVS | Genome Assembly |
---|---|
NC_000002.12:g.75565140C>T , CM000664.2:g.75565140C>T | GRCh38 |
NC_000002.11:g.75792266C>T , CM000664.1:g.75792266C>T | GRCh37 |
NC_000002.10:g.75645774C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000233712.5:c.-192+4336G>A | ENSP00000233712.1:n.-192+4336G>A | |
ENST00000486696.1:n.223+4336G>A | ||
NM_032181.2:c.-192+4336G>A | NP_115557.1:n.-192+4336G>A | |
NM_032181.3:c.-192+4336G>A | NP_115557.1:n.-192+4336G>A |