HGVS | Genome Assembly |
---|---|
NC_000004.12:g.4863149C= , CM000666.2:g.4863149C= | GRCh38 |
NC_000004.11:g.4864876C= , CM000666.1:g.4864876C= | GRCh37 |
NC_000004.10:g.4915777C= | NCBI36 |
NG_008121.1:g.8485C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382723.5:c.*6C= MANE Select | ENSP00000372170.4:n.*6C= | |
ENST00000382723.4:c.*6C= | ENSP00000372170.4:n.*6C= | |
NM_002448.3:c.*6C= MANE Select | NP_002439.2:n.*6C= |