HGVS | Genome Assembly |
---|---|
NC_000012.12:g.21178561C>A , CM000674.2:g.21178561C>A | GRCh38 |
NC_000012.11:g.21331495C>A , CM000674.1:g.21331495C>A | GRCh37 |
NC_000012.10:g.21222762C>A | NCBI36 |
NG_011745.1:g.52368C>A , LRG_1022:g.52368C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000256958.3:c.482-15C>A MANE Select | ENSP00000256958.2:n.482-15C>A | |
ENST00000256958.2:c.482-15C>A | ENSP00000256958.2:n.482-15C>A | |
NM_006446.4:c.482-15C>A , LRG_1022t1:c.482-15C>A | NP_006437.3:n.482-15C>A | |
NM_006446.5:c.482-15C>A MANE Select | NP_006437.3:n.482-15C>A |