HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7533843C= , CM000681.2:g.7533843C= | GRCh38 |
NC_000019.9:g.7598729C= , CM000681.1:g.7598729C= | GRCh37 |
NC_000019.8:g.7504729C= | NCBI36 |
NG_013374.1:g.4692C= | |
NG_015806.1:g.16234C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264079.11:c.*48C= MANE Select | ENSP00000264079.5:n.*48C= | |
ENST00000264079.10:c.*48C= | ENSP00000264079.5:n.*48C= | |
ENST00000394321.9:n.2106C= | ||
ENST00000599334.1:c.519C= | ||
ENST00000601870.1:c.144C= | ||
ENST00000602227.1:n.345C= | ||
NM_020533.2:c.*48C= | NP_065394.1:n.*48C= | |
NM_020533.3:c.*48C= MANE Select | NP_065394.1:n.*48C= |