HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240869364T= , CM000664.2:g.240869364T= | GRCh38 |
NC_000002.11:g.241808781T= , CM000664.1:g.241808781T= | GRCh37 |
NC_000002.10:g.241457454T= | NCBI36 |
NG_008005.1:g.5620T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307503.4:c.358+2T= MANE Select | ENSP00000302620.3:n.358+2T= | |
ENST00000307503.3:c.358+2T= | ENSP00000302620.3:n.358+2T= | |
ENST00000472436.1:n.378+2T= | ||
NM_000030.2:c.358+2T= | NP_000021.1:n.358+2T= | |
XR_924060.1:n.405+869A= | ||
NM_000030.3:c.358+2T= MANE Select | NP_000021.1:n.358+2T= |