HGVS | Genome Assembly |
---|---|
NC_000005.10:g.119452453C>A , CM000667.2:g.119452453C>A | GRCh38 |
NC_000005.9:g.118788148C>A , CM000667.1:g.118788148C>A | GRCh37 |
NC_000005.8:g.118816047C>A | NCBI36 |
NG_008182.1:g.5001C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000256216.10:c.-123C>A | ENSP00000256216.6:n.-123C>A | |
NM_000414.3:c.-123C>A | NP_000405.1:n.-123C>A | |
NM_001199292.1:c.-123C>A | NP_001186221.1:n.-123C>A | |
NM_001292027.1:c.-260C>A | NP_001278956.1:n.-260C>A |