HGVS | Genome Assembly |
---|---|
NC_000001.11:g.215781797G= , CM000663.2:g.215781797G= | GRCh38 |
NC_000001.10:g.215955139G= , CM000663.1:g.215955139G= | GRCh37 |
NC_000001.9:g.214021762G= | NCBI36 |
NG_009497.1:g.646600C= | |
NG_009497.2:g.646652C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307340.8:c.10740+245C= MANE Select | ENSP00000305941.3:n.10740+245C= | |
ENST00000674083.1:c.10740+245C= | ENSP00000501296.1:n.10740+245C= | |
ENST00000307340.7:c.10740+245C= | ENSP00000305941.3:n.10740+245C= | |
NM_206933.2:c.10740+245C= | NP_996816.2:n.10740+245C= | |
NM_206933.3:c.10740+245C= | NP_996816.2:n.10740+245C= | |
NM_206933.4:c.10740+245C= MANE Select | NP_996816.3:n.10740+245C= |