HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48410997A>T , CM000677.2:g.48410997A>T | GRCh38 |
NC_000015.9:g.48703194A>T , CM000677.1:g.48703194A>T | GRCh37 |
NC_000015.8:g.46490486A>T | NCBI36 |
NG_008805.2:g.239792T>A , LRG_778:g.239792T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.*1417T>A | ENSP00000453958.2:n.*1417T>A | |
ENST00000682158.1:n.1990T>A | ||
ENST00000682170.1:n.2790T>A | ||
ENST00000682767.1:n.1906T>A | ||
ENST00000316623.10:c.8609T>A MANE Select | ENSP00000325527.5:p.Leu2870His | |
ENST00000316623.9:c.8609T>A | ENSP00000325527.5:p.Leu2870His | |
ENST00000559133.5:c.3978T>A | ||
NM_000138.4:c.8609T>A , LRG_778t1:c.8609T>A | NP_000129.3:p.Leu2870His | |
NM_000138.5:c.8609T>A MANE Select | NP_000129.3:p.Leu2870His |