HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7455547A= , CM000679.2:g.7455547A= | GRCh38 |
NC_000017.10:g.7358866A= , CM000679.1:g.7358866A= | GRCh37 |
NC_000017.9:g.7299590A= | NCBI36 |
NG_008026.1:g.15461A= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000306071.7:c.1217+91A= MANE Select | ENSP00000304290.2:n.1217+91A= | |
ENST00000306071.6:c.1217+91A= | ENSP00000304290.2:n.1217+91A= | |
ENST00000536404.6:c.1001+91A= | ENSP00000439209.2:n.1001+91A= | |
ENST00000570557.5:c.880+91A= | ||
ENST00000573209.1:n.2252A= | ||
ENST00000576360.1:c.854+91A= | ENSP00000459092.1:n.854+91A= | |
NM_000747.2:c.1217+91A= | NP_000738.2:n.1217+91A= | |
NM_000747.3:c.1217+91A= MANE Select | NP_000738.2:n.1217+91A= |