HGVS | Genome Assembly |
---|---|
NC_000015.10:g.74754460G= , CM000677.2:g.74754460G= | GRCh38 |
NC_000015.9:g.75046801G= , CM000677.1:g.75046801G= | GRCh37 |
NC_000015.8:g.72833854G= | NCBI36 |
NG_008431.1:g.36919G= | |
NG_008431.2:g.36919G= | |
NG_061543.1:g.10616G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000343932.5:c.1254-331G= MANE Select | ENSP00000342007.4:n.1254-331G= | |
ENST00000343932.4:c.1254-331G= | ENSP00000342007.4:n.1254-331G= | |
NM_000761.4:c.1254-331G= | NP_000752.2:n.1254-331G= | |
NM_000761.5:c.1254-331G= MANE Select | NP_000752.2:n.1254-331G= |