HGVS | Genome Assembly |
---|---|
NC_000016.10:g.82095652G= , CM000678.2:g.82095652G= | GRCh38 |
NC_000016.9:g.82129257G= , CM000678.1:g.82129257G= | GRCh37 |
NC_000016.8:g.80686758G= | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000199936.9:c.803-2423G= MANE Select | ENSP00000199936.4:n.803-2423G= | |
ENST00000199936.8:c.803-2423G= | ENSP00000199936.4:n.803-2423G= | |
ENST00000566838.2:c.5043G= | ENSP00000456471.1:n.5043G= | |
ENST00000568090.5:c.395-2423G= | ENSP00000456529.1:n.395-2423G= | |
NM_002153.2:c.803-2423G= | NP_002144.1:n.803-2423G= | |
XR_001751898.2:n.1021-2423G= | ||
NM_002153.3:c.803-2423G= MANE Select | NP_002144.1:n.803-2423G= |