HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48045805C= , CM000675.2:g.48045805C= | GRCh38 |
NC_000013.10:g.48619941C= , CM000675.1:g.48619941C= | GRCh37 |
NC_000013.9:g.47517942C= | NCBI36 |
NG_047021.1:g.13239C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258662.3:c.*6C= MANE Select | ENSP00000258662.1:n.*6C= | |
ENST00000258662.2:c.*6C= | ENSP00000258662.1:n.*6C= | |
NM_018283.2:c.*6C= | NP_060753.1:n.*6C= | |
NM_018283.3:c.*6C= | NP_060753.1:n.*6C= | |
NR_136687.1:n.681C= | ||
NR_136688.1:n.675+6C= | ||
NM_018283.4:c.*6C= MANE Select | NP_060753.1:n.*6C= | |
NR_136687.2:n.522C= | ||
NR_136688.2:n.516+6C= |