HGVS | Genome Assembly |
---|---|
NC_000002.12:g.176093619C>A , CM000664.2:g.176093619C>A | GRCh38 |
NC_000002.11:g.176958347C>A , CM000664.1:g.176958347C>A | GRCh37 |
NC_000002.10:g.176666593C>A | NCBI36 |
NG_008137.1:g.5816C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000392539.4:c.729C>A MANE Select | ENSP00000376322.3:p.Tyr243Ter | |
ENST00000392539.3:c.729C>A | ENSP00000376322.3:p.Tyr243Ter | |
NM_000523.3:c.729C>A | NP_000514.2:p.Tyr243Ter | |
XM_011511068.1:c.725-861C>A | XP_011509370.1:n.725-861C>A | |
XM_011511068.2:c.725-861C>A | XP_011509370.1:n.725-861C>A | |
NM_000523.4:c.729C>A MANE Select | NP_000514.2:p.Tyr243Ter |