HGVS | Genome Assembly |
---|---|
NC_000002.12:g.176093620T= , CM000664.2:g.176093620T= | GRCh38 |
NC_000002.11:g.176958348T= , CM000664.1:g.176958348T= | GRCh37 |
NC_000002.10:g.176666594T= | NCBI36 |
NG_008137.1:g.5817T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000392539.4:c.730T= MANE Select | ENSP00000376322.3:p.Cys244= | |
ENST00000392539.3:c.730T= | ENSP00000376322.3:p.Cys244= | |
NM_000523.3:c.730T= | NP_000514.2:p.Cys244= | |
XM_011511068.1:c.725-860T= | XP_011509370.1:n.725-860T= | |
XM_011511068.2:c.725-860T= | XP_011509370.1:n.725-860T= | |
NM_000523.4:c.730T= MANE Select | NP_000514.2:p.Cys244= |