HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48411007G= , CM000677.2:g.48411007G= | GRCh38 |
NC_000015.9:g.48703204G= , CM000677.1:g.48703204G= | GRCh37 |
NC_000015.8:g.46490496G= | NCBI36 |
NG_008805.2:g.239782C= , LRG_778:g.239782C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.*1407C= | ENSP00000453958.2:n.*1407C= | |
ENST00000682158.1:n.1980C= | ||
ENST00000682170.1:n.2780C= | ||
ENST00000682767.1:n.1896C= | ||
ENST00000316623.10:c.8599C= MANE Select | ENSP00000325527.5:p.Gln2867= | |
ENST00000316623.9:c.8599C= | ENSP00000325527.5:p.Gln2867= | |
ENST00000559133.5:c.3968C= | ||
NM_000138.4:c.8599C= , LRG_778t1:c.8599C= | NP_000129.3:p.Gln2867= | |
NM_000138.5:c.8599C= MANE Select | NP_000129.3:p.Gln2867= |