HGVS | Genome Assembly |
---|---|
NC_000019.10:g.47004089C= , CM000681.2:g.47004089C= | GRCh38 |
NC_000019.9:g.47507346C= , CM000681.1:g.47507346C= | GRCh37 |
NC_000019.8:g.52199186C= | NCBI36 |
NG_047014.1:g.90523C= | |
NG_047014.2:g.148093C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000404338.8:c.7901C= | ENSP00000385720.2:n.7901C= | |
ENST00000672722.1:c.*3401C= MANE Select | ENSP00000500409.1:n.*3401C= | |
ENST00000404338.7:c.7901C= | ENSP00000385720.2:n.7901C= | |
ENST00000614079.1:c.7478C= | ENSP00000483730.1:n.7478C= | |
NM_004491.4:c.7901C= | NP_004482.4:n.7901C= | |
NM_004491.5:c.*3401C= MANE Select | NP_004482.4:n.*3401C= |