HGVS | Genome Assembly |
---|---|
NC_000001.11:g.68429836G>T , CM000663.2:g.68429836G>T | GRCh38 |
NC_000001.10:g.68895519G>T , CM000663.1:g.68895519G>T | GRCh37 |
NC_000001.9:g.68668107G>T | NCBI36 |
NG_008472.1:g.25124C>A | |
NG_008472.2:g.25124C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262340.6:c.1542C>A MANE Select | ENSP00000262340.5:p.Ala514= | |
ENST00000262340.5:c.1542C>A | ENSP00000262340.5:p.Ala514= | |
NM_000329.2:c.1542C>A | NP_000320.1:p.Ala514= | |
XM_017002027.1:c.1266C>A | XP_016857516.1:p.Ala422= | |
NM_000329.3:c.1542C>A MANE Select | NP_000320.1:p.Ala514= |