HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6709814T>G , CM000681.2:g.6709814T>G | GRCh38 |
NC_000019.9:g.6709825T>G , CM000681.1:g.6709825T>G | GRCh37 |
NC_000019.8:g.6660825T>G | NCBI36 |
NG_009557.1:g.15838A>C , LRG_27:g.15838A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.1592A>C | ENSP00000512083.1:p.Asp531Ala | |
ENST00000695654.1:c.839A>C | ENSP00000512085.1:p.Asp280Ala | |
ENST00000695655.1:c.656A>C | ENSP00000512086.1:n.656A>C | |
ENST00000695692.1:n.1079A>C | ||
ENST00000245907.11:c.1715A>C MANE Select | ENSP00000245907.4:p.Asp572Ala | |
ENST00000245907.10:c.1715A>C | ENSP00000245907.4:p.Asp572Ala | |
ENST00000600763.1:n.348A>C | ||
NM_000064.3:c.1715A>C | NP_000055.2:p.Asp572Ala | |
NM_000064.4:c.1715A>C MANE Select | NP_000055.2:p.Asp572Ala |