HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6710839T>C , CM000681.2:g.6710839T>C | GRCh38 |
NC_000019.9:g.6710850T>C , CM000681.1:g.6710850T>C | GRCh37 |
NC_000019.8:g.6661850T>C | NCBI36 |
NG_009557.1:g.14813A>G , LRG_27:g.14813A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000695652.1:c.1363A>G | ENSP00000512083.1:p.Asn455Asp | |
ENST00000695654.1:c.610A>G | ENSP00000512085.1:p.Asn204Asp | |
ENST00000695655.1:c.391A>G | ENSP00000512086.1:p.Asn131Asp | |
ENST00000695692.1:n.850A>G | ||
ENST00000245907.11:c.1486A>G MANE Select | ENSP00000245907.4:p.Asn496Asp | |
ENST00000245907.10:c.1486A>G | ENSP00000245907.4:p.Asn496Asp | |
ENST00000600763.1:n.119A>G | ||
NM_000064.3:c.1486A>G | NP_000055.2:p.Asn496Asp | |
NM_000064.4:c.1486A>G MANE Select | NP_000055.2:p.Asn496Asp |