HGVS | Genome Assembly |
---|---|
NC_000002.12:g.176093656A>T , CM000664.2:g.176093656A>T | GRCh38 |
NC_000002.11:g.176958384A>T , CM000664.1:g.176958384A>T | GRCh37 |
NC_000002.10:g.176666630A>T | NCBI36 |
NG_008137.1:g.5853A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000392539.4:c.766A>T MANE Select | ENSP00000376322.3:p.Lys256Ter | |
ENST00000392539.3:c.766A>T | ENSP00000376322.3:p.Lys256Ter | |
NM_000523.3:c.766A>T | NP_000514.2:p.Lys256Ter | |
XM_011511068.1:c.725-824A>T | XP_011509370.1:n.725-824A>T | |
XM_011511068.2:c.725-824A>T | XP_011509370.1:n.725-824A>T | |
NM_000523.4:c.766A>T MANE Select | NP_000514.2:p.Lys256Ter |