HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48472580A>T , CM000677.2:g.48472580A>T | GRCh38 |
NC_000015.9:g.48764777A>T , CM000677.1:g.48764777A>T | GRCh37 |
NC_000015.8:g.46552069A>T | NCBI36 |
NG_008805.2:g.178209T>A , LRG_778:g.178209T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.4307T>A | ENSP00000453958.2:p.Val1436Glu | |
ENST00000674301.2:c.4307T>A | ENSP00000501333.2:p.Val1436Glu | |
ENST00000683268.1:n.274T>A | ||
ENST00000684448.1:n.2981T>A | ||
ENST00000316623.10:c.4307T>A MANE Select | ENSP00000325527.5:p.Val1436Glu | |
ENST00000316623.9:c.4307T>A | ENSP00000325527.5:p.Val1436Glu | |
ENST00000537463.6:c.*70T>A | ENSP00000440294.2:n.*70T>A | |
NM_000138.4:c.4307T>A , LRG_778t1:c.4307T>A | NP_000129.3:p.Val1436Glu | |
NM_000138.5:c.4307T>A MANE Select | NP_000129.3:p.Val1436Glu |