HGVS | Genome Assembly |
---|---|
NC_000014.9:g.24255982C= , CM000676.2:g.24255982C= | GRCh38 |
NC_000014.8:g.24725188C= , CM000676.1:g.24725188C= | GRCh37 |
NC_000014.7:g.23795028C= | NCBI36 |
NG_007150.1:g.12185G= | |
NG_007150.2:g.12185G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000206765.11:c.1491+7G= MANE Select | ENSP00000206765.6:n.1491+7G= | |
ENST00000206765.10:c.1491+7G= | ENSP00000206765.6:n.1491+7G= | |
ENST00000544573.5:c.165+7G= | ENSP00000439446.1:n.165+7G= | |
ENST00000559136.1:c.564+7G= | ENSP00000453337.1:n.564+7G= | |
NM_000359.2:c.1491+7G= | NP_000350.1:n.1491+7G= | |
NM_000359.3:c.1491+7G= MANE Select | NP_000350.1:n.1491+7G= |