HGVS | Genome Assembly |
---|---|
NC_000001.11:g.169707428C= , CM000663.2:g.169707428C= | GRCh38 |
NC_000001.10:g.169676569C= , CM000663.1:g.169676569C= | GRCh37 |
NC_000001.9:g.167943193C= | NCBI36 |
NG_016132.1:g.9275G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000236147.6:c.494G= (SELL) MANE Select | ENSP00000236147.5:p.Cys165= | |
ENST00000650983.1:c.533G= (SELL) | ENSP00000498227.1:p.Cys178= | |
ENST00000236147.4:c.533G= (SELL) | ENSP00000236147.4:p.Cys178= | |
ENST00000463108.5:n.694G= (SELL) | ||
ENST00000466340.1:n.506G= (SELL) | ||
ENST00000479657.5:n.246G= (SELL) | ||
ENST00000498289.5:n.851+23496C= (FIRRM) | ||
NM_000655.4:c.533G= (SELL) | NP_000646.2:p.Cys178= | |
NR_029467.1:n.462G= (SELL) | ||
NM_000655.5:c.494G= (SELL) MANE Select | NP_000646.3:p.Cys165= | |
NR_029467.2:n.463G= (SELL) |