HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48430738G>T , CM000677.2:g.48430738G>T | GRCh38 |
NC_000015.9:g.48722935G>T , CM000677.1:g.48722935G>T | GRCh37 |
NC_000015.8:g.46510227G>T | NCBI36 |
NG_008805.2:g.220051C>A , LRG_778:g.220051C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.6804C>A | ENSP00000453958.2:p.Leu2268= | |
ENST00000674301.2:c.*255C>A | ENSP00000501333.2:n.*255C>A | |
ENST00000682170.1:n.413C>A | ||
ENST00000316623.10:c.6804C>A MANE Select | ENSP00000325527.5:p.Leu2268= | |
ENST00000674301.1:c.1908C>A | ENSP00000501333.1:n.1908C>A | |
ENST00000316623.9:c.6804C>A | ENSP00000325527.5:p.Leu2268= | |
ENST00000559133.5:c.2111C>A | ||
ENST00000560720.1:n.91C>A | ||
NM_000138.4:c.6804C>A , LRG_778t1:c.6804C>A | NP_000129.3:p.Leu2268= | |
NM_000138.5:c.6804C>A MANE Select | NP_000129.3:p.Leu2268= |