HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6713245G>T , CM000681.2:g.6713245G>T | GRCh38 |
NC_000019.9:g.6713256G>T , CM000681.1:g.6713256G>T | GRCh37 |
NC_000019.8:g.6664256G>T | NCBI36 |
NG_009557.1:g.12407C>A , LRG_27:g.12407C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.824C>A | ENSP00000512083.1:p.Ala275Glu | |
ENST00000695654.1:c.71C>A | ENSP00000512085.1:p.Ala24Glu | |
ENST00000695692.1:n.271C>A | ||
ENST00000245907.11:c.947C>A MANE Select | ENSP00000245907.4:p.Ala316Glu | |
ENST00000245907.10:c.947C>A | ENSP00000245907.4:p.Ala316Glu | |
ENST00000594270.5:n.71C>A | ||
ENST00000595577.1:n.451C>A | ||
ENST00000597442.5:n.197C>A | ||
NM_000064.3:c.947C>A | NP_000055.2:p.Ala316Glu | |
NM_000064.4:c.947C>A MANE Select | NP_000055.2:p.Ala316Glu |