HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240869355G= , CM000664.2:g.240869355G= | GRCh38 |
NC_000002.11:g.241808772G= , CM000664.1:g.241808772G= | GRCh37 |
NC_000002.10:g.241457445G= | NCBI36 |
NG_008005.1:g.5611G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307503.4:c.351G= MANE Select | ENSP00000302620.3:p.Glu117= | |
ENST00000307503.3:c.351G= | ENSP00000302620.3:p.Glu117= | |
ENST00000472436.1:n.371G= | ||
NM_000030.2:c.351G= | NP_000021.1:p.Glu117= | |
XR_924060.1:n.405+878C= | ||
NM_000030.3:c.351G= MANE Select | NP_000021.1:p.Glu117= |