HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23431362G= , CM000676.2:g.23431362G= | GRCh38 |
NC_000014.8:g.23900571G= , CM000676.1:g.23900571G= | GRCh37 |
NC_000014.7:g.22970411G= | NCBI36 |
NG_007884.1:g.9300C= , LRG_384:g.9300C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.796+56C= MANE Select | ENSP00000347507.3:n.796+56C= | |
ENST00000355349.3:c.796+56C= | ENSP00000347507.3:n.796+56C= | |
NM_000257.3:c.796+56C= | NP_000248.2:n.796+56C= | |
XR_245686.3:n.902+56C= | ||
XM_017021340.1:c.796+56C= | XP_016876829.1:n.796+56C= | |
NM_000257.4:c.796+56C= MANE Select | NP_000248.2:n.796+56C= |