HGVS | Genome Assembly |
---|---|
NC_000001.11:g.1535358C= , CM000663.2:g.1535358C= | GRCh38 |
NC_000001.10:g.1470738C= , CM000663.1:g.1470738C= | GRCh37 |
NC_000001.9:g.1460601C= | NCBI36 |
NG_041807.1:g.10003G= | |
NG_053035.1:g.28216C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378733.9:c.*1G= MANE Select | ENSP00000368007.4:n.*1G= | |
ENST00000378733.8:c.*1G= | ENSP00000368007.4:n.*1G= | |
ENST00000425828.1:c.*1G= | ENSP00000400311.1:n.*1G= | |
NM_001114748.1:c.*1G= | NP_001108220.1:n.*1G= | |
NM_001114748.2:c.*1G= MANE Select | NP_001108220.1:n.*1G= |