HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48467988A>T , CM000677.2:g.48467988A>T | GRCh38 |
NC_000015.9:g.48760185A>T , CM000677.1:g.48760185A>T | GRCh37 |
NC_000015.8:g.46547477A>T | NCBI36 |
NG_008805.2:g.182801T>A , LRG_778:g.182801T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.4697T>A | ENSP00000453958.2:p.Leu1566Gln | |
ENST00000674301.2:c.4697T>A | ENSP00000501333.2:p.Leu1566Gln | |
ENST00000684448.1:n.3371T>A | ||
ENST00000316623.10:c.4697T>A MANE Select | ENSP00000325527.5:p.Leu1566Gln | |
ENST00000316623.9:c.4697T>A | ENSP00000325527.5:p.Leu1566Gln | |
ENST00000537463.6:c.*460T>A | ENSP00000440294.2:n.*460T>A | |
ENST00000559133.5:c.4T>A | ||
NM_000138.4:c.4697T>A , LRG_778t1:c.4697T>A | NP_000129.3:p.Leu1566Gln | |
NM_000138.5:c.4697T>A MANE Select | NP_000129.3:p.Leu1566Gln |