HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154066G>T , CM000681.2:g.55154066G>T | GRCh38 |
NC_000019.9:g.55665434G>T , CM000681.1:g.55665434G>T | GRCh37 |
NC_000019.8:g.60357246G>T | NCBI36 |
NG_007866.2:g.8667C>A , LRG_432:g.8667C>A | |
NG_011829.2:g.173C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.513C>A MANE Select | ENSP00000341838.5:p.Ala171= | |
ENST00000665070.1:c.546C>A | ENSP00000499482.1:p.Ala182= | |
ENST00000344887.9:c.513C>A | ENSP00000341838.5:p.Ala171= | |
ENST00000585806.5:n.512C>A | ||
ENST00000588882.1:c.438C>A | ENSP00000466729.1:p.Ala146= | |
ENST00000589864.1:n.341C>A | ||
NM_000363.4:c.513C>A , LRG_432t1:c.513C>A | NP_000354.4:p.Ala171= | |
NM_000363.5:c.513C>A MANE Select | NP_000354.4:p.Ala171= |